Syndromic disease

MONDO:0002254

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.

Also known as: cluster, symptom, clusters, symptom, symptom cluster, symptom clusters, syndrome, syndrome associated with disease or disorder, syndromes, syndromic disease

7133 clinical trials for this condition and its sub-types, 25 tagged with Syndromic disease itself.

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Part of

↑ Disease by body system or component (93739)

Sub-types of Syndromic disease

Neoplastic syndrome 1 trial · 1,430 incl. sub-types
11 sub-types
- Hereditary neoplastic syndrome 60 trials · 731 incl. sub-types Sub-types →
- Myelodysplastic syndrome 653 trials · 671 incl. sub-types Sub-types →
- Ectopic ACTH secretion syndrome 15 trials
- Autoimmune lymphoproliferative syndrome 11 trials · 12 incl. sub-types Sub-types →
- Ectopic hormone secretion syndrome associated with neoplasia 0 trials · 5 incl. sub-types Sub-types →
- Tumor lysis syndrome 3 trials
- Zollinger-Ellison syndrome 2 trials
- Pancoast syndrome 1 trial
- Carney triad 0 trials
- Meigs syndrome 0 trials
- Growing teratoma syndrome 0 trials
Obstructive sleep apnea syndrome 516 trials · 517 incl. sub-types
1 sub-type
- Complex sleep apnea 1 trial
Acute respiratory distress syndrome 298 trials · 417 incl. sub-types
2 sub-types
- Adult acute respiratory distress syndrome 246 trials
- Pediatric acute respiratory distress syndrome 14 trials · 123 incl. sub-types Sub-types →
Abdominal obesity-metabolic syndrome 301 trials · 357 incl. sub-types
5 sub-types
- Metabolic syndrome X 338 trials
- LIPE-related familial partial lipodystrophy 0 trials
- Abdominal obesity-metabolic syndrome 3 0 trials
- Abdominal obesity-metabolic syndrome 4 0 trials
- Abdominal obesity-metabolic syndrome quantitative trait locus 2 0 trials
Acute coronary syndrome 298 trials
Fibromyalgia 279 trials
Dry eye syndrome 253 trials · 254 incl. sub-types
1 sub-type
- Xerophthalmia 2 trials
Toxic shock syndrome 224 trials
2 sub-types
- Staphylococcal toxic-shock syndrome 1 trial
- Streptococcal toxic-shock syndrome 1 trial
Irritable bowel syndrome 221 trials
Autoinflammatory syndrome 21 trials · 207 incl. sub-types
37 sub-types
- Sarcoidosis 61 trials · 84 incl. sub-types Sub-types →
- Periodic fever syndrome 2 trials · 25 incl. sub-types Sub-types →
- Systemic-onset juvenile idiopathic arthritis 25 trials
- Type 1 interferonopathy 4 trials · 21 incl. sub-types Sub-types →
- Autoinflammatory syndrome of childhood 0 trials · 19 incl. sub-types Sub-types →
- VEXAS syndrome 18 trials
- Adult-onset Still disease 12 trials
- Pyoderma gangrenosum 10 trials Sub-types →
- Idiopathic recurrent pericarditis 8 trials
- PFAPA syndrome 6 trials
- Chronic recurrent multifocal osteomyelitis 3 trials · 4 incl. sub-types Sub-types →
- SAPHO syndrome 3 trials
- Schnitzler syndrome 1 trial
- Cherubism 1 trial Sub-types →
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome 0 trials
- F12-associated cold autoinflammatory syndrome 0 trials
- PAPASH syndrome 0 trials
- Pelger-Huet-like anomaly and episodic fever with abdominal pain 0 trials
- SAMD9L-associated autoinflammatory syndrome 0 trials
- Sharpin-related autoinflammatory syndrome 0 trials
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 trials
- Autoinflammatory disease, X-linked 0 trials
- Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 trials Sub-types →
- Autoinflammatory disease, systemic, with vasculitis 0 trials
- Autoinflammatory syndrome with immunodeficiency 0 trials
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 0 trials
- Autoinflammatory syndrome, familial, Behcet-like 0 trials Sub-types →
- Autoinflammatory syndrome due to TBK1 deficiency 0 trials
- Early-onset pulmonary and cutaneous vasculitis 0 trials
- Granulomatous autoinflammatory syndrome of childhood 0 trials
- Infantile onset panniculitis with uveitis and systemic granulomatosis 0 trials
- Magic syndrome 0 trials
- Neonatal inflammatory skin and bowel disease 0 trials Sub-types →
- Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 0 trials
- Psoriasis 14, pustular 0 trials
- Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome 0 trials
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 trials
Psoriatic arthritis 188 trials · 201 incl. sub-types
1 sub-type
- Psoriasis-related juvenile idiopathic arthritis 15 trials
Polycystic ovary syndrome 200 trials
Sjogren syndrome 166 trials
Temporomandibular joint dysfunction syndrome 85 trials
Progressive supranuclear palsy 73 trials · 77 incl. sub-types
4 sub-types
- Supranuclear palsy, progressive, 1 5 trials
- Atypical progressive supranuclear palsy syndrome 1 trial · 4 incl. sub-types Sub-types →
- Supranuclear palsy, progressive, 2 0 trials
- Supranuclear palsy, progressive, 3 0 trials
Myalgic encephalomeyelitis/chronic fatigue syndrome 73 trials
Syndromic dyslipidemia 0 trials · 73 incl. sub-types
29 sub-types
- CHILD syndrome 37 trials
- Smith-Lemli-Opitz syndrome 6 trials
- Cerebrotendinous xanthomatosis 6 trials
- Familial lipoprotein lipase deficiency 6 trials
- Lysosomal acid lipase deficiency 4 trials · 6 incl. sub-types Sub-types →
- Barth syndrome 5 trials
- Mevalonate kinase deficiency 3 trials · 4 incl. sub-types Sub-types →
- GM1 gangliosidosis type 1 3 trials
- Sjogren-Larsson syndrome 3 trials
- Nephrotic syndrome 14 3 trials
- Apparent mineralocorticoid excess 1 trial
- Neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 trial
- Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types Sub-types →
- Rhizomelic chondrodysplasia punctata type 1 1 trial
- CHIME syndrome 0 trials
- Krabbe disease due to saposin A deficiency 0 trials
- PHARC syndrome 0 trials
- Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 0 trials
- Familial apolipoprotein C-II deficiency 0 trials
- Fatty acid hydroxylase-associated neurodegeneration 0 trials
- Hereditary spastic paraplegia 39 0 trials Sub-types →
- Hyperlipoproteinemia, type 1D 0 trials
- Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
- Intellectual disability, autosomal recessive 53 0 trials
- Lipoprotein glomerulopathy 0 trials
- Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
- Sea-blue histiocyte syndrome 0 trials
- Sitosterolemia 0 trials Sub-types →
Nephrotic syndrome 47 trials · 71 incl. sub-types
4 sub-types
- Idiopathic nephrotic syndrome 13 trials · 24 incl. sub-types Sub-types →
- Familial nephrotic syndrome 0 trials · 22 incl. sub-types Sub-types →
- Steroid-resistant nephrotic syndrome 5 trials · 15 incl. sub-types Sub-types →
- Nephrotic syndrome ocular anomalies 0 trials
Cushing syndrome 42 trials · 66 incl. sub-types
2 sub-types
- Endogenous Cushing syndrome 3 trials · 38 incl. sub-types Sub-types →
- Exogenous Cushing syndrome 1 trial
Myotonic syndrome 11 trials · 61 incl. sub-types
5 sub-types
- Myotonic dystrophy 56 trials · 57 incl. sub-types Sub-types →
- Nondystrophic myotonia 4 trials
- Laryngospasm, severe neonatal episodic 1 trial
- Paramyotonia congenita of Von Eulenburg 1 trial
- Potassium-aggravated myotonia 0 trials Sub-types →
Antiphospholipid syndrome 58 trials · 59 incl. sub-types
4 sub-types
- Primary antiphospholipid syndrome 4 trials
- Catastrophic antiphospholipid syndrome 1 trial
- Familial antiphospholipid syndrome 0 trials
- Secondary antiphospholipid syndrome 0 trials Sub-types →
Substance withdrawal syndrome 30 trials · 59 incl. sub-types
3 sub-types
- Neonatal abstinence syndrome 18 trials
- Alcohol withdrawal 11 trials · 13 incl. sub-types Sub-types →
- Baclofen withdrawal syndrome 0 trials
Hemophagocytic syndrome 38 trials · 58 incl. sub-types
2 sub-types
- Secondary hemophagocytic lymphohistiocytosis 15 trials · 24 incl. sub-types Sub-types →
- Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types Sub-types →
Multiple organ dysfunction syndrome 50 trials
Hypereosinophilic syndrome 19 trials · 49 incl. sub-types
8 sub-types
- Pulmonary eosinophilia 30 trials Sub-types →
- Idiopathic hypereosinophilic syndrome 1 trial Sub-types →
- Secondary hypereosinophilic syndrome 0 trials · 1 incl. sub-types Sub-types →
- Disseminated eosinophilic collagen disease 0 trials
- Eosinophilia-myalgia syndrome 0 trials
- Episodic angioedema with eosinophilia 0 trials
- Hypereosinophilia of undetermined significance 0 trials
- Primary hypereosinophilic syndrome 0 trials
Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types
25 sub-types
- Ehlers-Danlos syndrome, hypermobility type 15 trials
- Joint laxity, familial 14 trials
- Ehlers-Danlos syndrome, vascular type 6 trials Sub-types →
- Bethlem myopathy 2 0 trials
- COL1A1-related Ehlers-Danlos syndrome 0 trials Sub-types →
- COL1A2-related Ehlers-Danlos syndrome 0 trials Sub-types →
- Ehlers-Danlos syndrome due to tenascin-X deficiency 0 trials
- Ehlers-Danlos syndrome, Beasley-Cohen type 0 trials
- Ehlers-Danlos syndrome, arthrochalasia type 0 trials Sub-types →
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified 0 trials
- Ehlers-Danlos syndrome, classic type 0 trials Sub-types →
- Ehlers-Danlos syndrome, classic-like, 2 0 trials
- Ehlers-Danlos syndrome, classic-like, 3 0 trials
- Ehlers-Danlos syndrome, dermatosparaxis type 0 trials
- Ehlers-Danlos syndrome, fibronectinemic type 0 trials
- Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 trials
- Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
- Ehlers-Danlos syndrome, periodontitis type 0 trials Sub-types →
- Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
- Ehlers-Danlos syndrome, vascular-like type 0 trials
- Ehlers-Danlos/osteogenesis imperfecta syndrome 0 trials Sub-types →
- X-linked Ehlers-Danlos syndrome 0 trials
- Brittle cornea syndrome 0 trials Sub-types →
- Spondylodysplastic Ehlers-Danlos syndrome 0 trials
Ectodermal dysplasia syndrome 3 trials · 45 incl. sub-types
120 sub-types
- Dyskeratosis congenita 12 trials Sub-types →
- CTSC-related disorder 0 trials · 11 incl. sub-types Sub-types →
- Cardiofaciocutaneous syndrome 7 trials Sub-types →
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 4 trials
- Incontinentia pigmenti 3 trials
- Ectodermal dysplasia WNT10A related 0 trials · 2 incl. sub-types Sub-types →
- Trichothiodystrophy 2 trials Sub-types →
- Cronkhite-Canada syndrome 1 trial
- Ellis-van Creveld syndrome 1 trial Sub-types →
- Cartilage-hair hypoplasia 1 trial Sub-types →
- Hypohidrotic ectodermal dysplasia 1 trial Sub-types →
- Trichorhinophalangeal syndrome 0 trials · 1 incl. sub-types Sub-types →
- ADULT syndrome 0 trials
- AREDYLD syndrome 0 trials
- Ackerman syndrome 0 trials
- Barber-Say syndrome 0 trials
- Bartsocas-Papas syndrome 1 0 trials
- Brunoni syndrome 0 trials
- Böök syndrome 0 trials
- CHIME syndrome 0 trials
- Clouston syndrome 0 trials
- Curly hair - acral keratoderma - caries syndrome 0 trials
- Dahlberg-Borer-Newcomer syndrome 0 trials
- Dubowitz syndrome 0 trials
- EEM syndrome 0 trials
- Fontaine progeroid syndrome 0 trials
- Fried's tooth and nail syndrome 0 trials
- GAPO syndrome 0 trials
- Ito hypomelanosis 0 trials
- Johnson neuroectodermal syndrome 0 trials
- KID syndrome 0 trials Sub-types →
- Lelis syndrome 0 trials
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 0 trials
- Marshall syndrome 0 trials
- Naegeli-Franceschetti-Jadassohn syndrome 0 trials
- Rapp-Hodgkin syndrome 0 trials
- Schinzel-Giedion syndrome 0 trials
- Stern-Lubinsky-Durrie syndrome 0 trials
- Teebi-Shaltout syndrome 0 trials
- Toriello-Lacassie-Droste syndrome 0 trials
- Acrofacial dysostosis, Weyers type 0 trials
- Alopecia - contractures - dwarfism - intellectual disability syndrome 0 trials
- Alves Castelo dos Santos syndrome 0 trials
- Amelocerebrohypohidrotic syndrome 0 trials
- Ameloonychohypohidrotic syndrome 0 trials
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials Sub-types →
- Anonychia with flexural pigmentation 0 trials
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 trials
- Arthrogryposis-ectodermal dysplasia-other anomalies syndrome 0 trials
- Autosomal dominant palmoplantar keratoderma and congenital alopecia 0 trials
- Autosomal dominant trichoodontoonychodysplasia-syndactyly 0 trials
- Autosomal recessive palmoplantar keratoderma and congenital alopecia 0 trials
- Blepharocheilodontic syndrome 0 trials Sub-types →
- Cataract-hypertrichosis-intellectual disability syndrome 0 trials
- Cerebellar ataxia-ectodermal dysplasia syndrome 0 trials
- Chondroectodermal dysplasia with night blindness 0 trials
- Choroidal atrophy-alopecia syndrome 0 trials
- Circumscribed palmoplantar hypokeratosis 0 trials
- Cleft lip/palate-ectodermal dysplasia syndrome 0 trials
- Conductive deafness-ptosis-skeletal anomalies syndrome 0 trials
- Congenital hypotrichosis with juvenile macular dystrophy 0 trials
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome 0 trials
- Cranioectodermal dysplasia 0 trials Sub-types →
- Dermatoosteolysis, Kirghizian type 0 trials
- Dermatopathia pigmentosa reticularis 0 trials
- Dermo-odonto dysplasia 0 trials
- Dermotrichic syndrome 0 trials
- Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 trials
- Ectodermal dysplasia 13, hair/tooth type 0 trials
- Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0 trials
- Ectodermal dysplasia 15, hypohidrotic/hair type 0 trials
- Ectodermal dysplasia 17 with or without limb malformations 0 trials
- Ectodermal dysplasia 5, hair/nail type 0 trials
- Ectodermal dysplasia Bartalos type 0 trials
- Ectodermal dysplasia alopecia preaxial polydactyly 0 trials
- Ectodermal dysplasia arthrogryposis diabetes mellitus 0 trials
- Ectodermal dysplasia blindness 0 trials
- Ectodermal dysplasia margarita type 0 trials
- Ectodermal dysplasia neurosensory deafness 0 trials
- Ectodermal dysplasia with natal teeth, Turnpenny type 0 trials
- Ectodermal dysplasia, trichoodontoonychial type 0 trials
- Ectodermal dysplasia-blindness syndrome 0 trials
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 0 trials
- Ectodermal dysplasia-sensorineural deafness syndrome 0 trials
- Ectodermal dysplasia-syndactyly syndrome 0 trials Sub-types →
- Epidermolysis bullosa simplex due to plakophilin deficiency 0 trials
- Focal facial dermal dysplasia 0 trials Sub-types →
- Gingival fibromatosis-hypertrichosis syndrome 0 trials
- Hidrotic ectodermal dysplasia, Christianson-Fourie type 0 trials
- Hidrotic ectodermal dysplasia, Halal type 0 trials
- Hypertrichosis cubiti-short stature syndrome 0 trials
- Hypertrichosis lanuginosa congenita 0 trials Sub-types →
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 0 trials
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 0 trials
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 0 trials
- Jones hersh yusk syndrome 0 trials
- Limb-mammary syndrome 0 trials
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 0 trials
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 0 trials
- Oculodentodigital dysplasia 0 trials Sub-types →
- Oculoosteocutaneous syndrome 0 trials
- Oculotrichodysplasia 0 trials
- Odonto-onycho dysplasia-alopecia syndrome 0 trials
- Odonto-tricho-ungual-digito-palmar syndrome 0 trials
- Odontomicronychial dysplasia 0 trials
- Odontotrichomelic syndrome 0 trials
- Pili torti-onychodysplasia syndrome 0 trials
- Pilodental dysplasia-refractive errors syndrome 0 trials
- Pure hair and nail ectodermal dysplasia 0 trials Sub-types →
- Scalp-ear-nipple syndrome 0 trials
- Taurodontia-absent teeth-sparse hair syndrome 0 trials
- Tooth and nail syndrome 0 trials
- Tricho-dento-osseous syndrome 0 trials
- Tricho-oculo-dermo-vertebral syndrome 0 trials
- Tricho-retino-dento-digital syndrome 0 trials
- Trichodental syndrome 0 trials
- Trichodermodysplasia-dental alterations syndrome 0 trials
- Trichodysplasia-amelogenesis imperfecta syndrome 0 trials
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 trials
- Trichoodontoonychial dysplasia 0 trials
Alpha 1-antitrypsin deficiency 44 trials
Tourette syndrome 41 trials
Guillain-Barre syndrome 23 trials · 39 incl. sub-types
11 sub-types
- Polyneuropathy, inflammatory demyelinating, chronic 15 trials
- Guillain-Barre syndrome, familial 1 trial
- Acute inflammatory demyelinating polyradiculoneuropathy 1 trial
- Autoimmune autonomic ganglionopathy 1 trial
- Acute motor and sensory axonal neuropathy 0 trials
- Acute motor axonal neuropathy 0 trials
- Acute pure sensory neuropathy 0 trials
- Acute sensory ataxic neuropathy 0 trials
- Facial diplegia with paresthesias 0 trials
- Paraparetic variant of Guillain-Barre syndrome 0 trials
- Pharyngeal-cervical-brachial variant of Guillain-Barre syndrome 0 trials
Type 2 collagenopathy 0 trials · 39 incl. sub-types
14 sub-types
- Dysplasia of the proximal femoral epiphyses 0 trials · 36 incl. sub-types Sub-types →
- Stickler syndrome type 1 3 trials Sub-types →
- Kniest dysplasia 0 trials
- Achondrogenesis type II 0 trials
- Hypochondrogenesis 0 trials
- Multiple epiphyseal dysplasia, Beighton type 0 trials
- Platyspondylic dysplasia, Torrance type 0 trials
- Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
- Spondyloepiphyseal dysplasia congenita 0 trials
- Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
- Spondyloepiphyseal dysplasia, Stanescu type 0 trials
- Spondylometaphyseal dysplasia, 'corner fracture' type 0 trials
- Spondylometaphyseal dysplasia, Schmidt type 0 trials
- Spondyloperipheral dysplasia 0 trials
Syndromic intellectual disability 2 trials · 38 incl. sub-types
17 sub-types
- Autosomal dominant syndromic intellectual disability 0 trials · 15 incl. sub-types Sub-types →
- X-linked syndromic intellectual disability 0 trials · 12 incl. sub-types Sub-types →
- Smith-Magenis syndrome 5 trials
- Rubinstein-Taybi syndrome 3 trials Sub-types →
- Autosomal recessive syndromic intellectual disability 0 trials · 1 incl. sub-types Sub-types →
- Dyneinopathy 0 trials · 1 incl. sub-types Sub-types →
- 2p25.3 microduplication syndrome 0 trials
- 3q27.3 microdeletion syndrome 0 trials
- 7p22.1 microduplication syndrome 0 trials
- 9p13 microdeletion syndrome 0 trials
- 9q31.1q31.3 microdeletion syndrome 0 trials
- 9q33.3q34.11 microdeletion syndrome 0 trials
- AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 trials
- CK syndrome 0 trials
- Aplasia cutis-enamel dysplasia syndrome 0 trials
- Intellectual disability, Buenos-Aires type 0 trials
- Intellectual disability, Wolff type 0 trials
Behcet disease 37 trials
Syndromic agammaglobulinemia 7 trials · 37 incl. sub-types
3 sub-types
- Common variable immunodeficiency 29 trials · 31 incl. sub-types Sub-types →
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 0 trials
- Transient hypogammaglobulinemia 0 trials Sub-types →
X-linked ichthyosis syndrome 0 trials · 37 incl. sub-types
2 sub-types
- CHILD syndrome 37 trials
- Syndromic recessive X-linked ichthyosis 0 trials
Fragile X syndrome 34 trials
4 sub-types
- Fragile X syndrome type 1 0 trials
- Fragile X syndrome type 2 0 trials
- Fragile X syndrome type 3 0 trials
- Symptomatic form of fragile X syndrome in female carrier 0 trials
Primary ciliary dyskinesia 34 trials
59 sub-types
- Primary ciliary dyskinesia 1 6 trials
- CFAP46-related primary ciliary dyskinesia 0 trials
- Stromme syndrome 0 trials
- Ciliary discoordination due to random ciliary orientation 0 trials
- Ciliary dyskinesia with defective radial spokes 0 trials
- Ciliary dyskinesia with excessively long cilia 0 trials
- Ciliary dyskinesia with transposition of ciliary microtubules 0 trials
- Ciliary dyskinesia, primary, 36, X-linked 0 trials
- Ciliary dyskinesia, primary, 37 0 trials
- Ciliary dyskinesia, primary, 38 0 trials
- Ciliary dyskinesia, primary, 39 0 trials
- Ciliary dyskinesia, primary, 40 0 trials
- Ciliary dyskinesia, primary, 41 0 trials
- Ciliary dyskinesia, primary, 42 0 trials
- Ciliary dyskinesia, primary, 43 0 trials
- Ciliary dyskinesia, primary, 44 0 trials
- Ciliary dyskinesia, primary, 45 0 trials
- Ciliary dyskinesia, primary, 46 0 trials
- Ciliary dyskinesia, primary, 47, and lissencephaly 0 trials
- Ciliary dyskinesia, primary, 48, without situs inversus 0 trials
- Ciliary dyskinesia, primary, 49, without situs inversus 0 trials
- Ciliary dyskinesia, primary, 50 0 trials
- Ciliary dyskinesia, primary, 51 0 trials
- Ciliary dyskinesia, primary, 52 0 trials
- Ciliary dyskinesia, primary, 53 0 trials
- Ciliary dyskinesia, primary, 54 0 trials
- Primary ciliary dyskinesia 10 0 trials
- Primary ciliary dyskinesia 11 0 trials
- Primary ciliary dyskinesia 12 0 trials
- Primary ciliary dyskinesia 13 0 trials
- Primary ciliary dyskinesia 14 0 trials
- Primary ciliary dyskinesia 15 0 trials
- Primary ciliary dyskinesia 16 0 trials
- Primary ciliary dyskinesia 17 0 trials
- Primary ciliary dyskinesia 18 0 trials
- Primary ciliary dyskinesia 19 0 trials
- Primary ciliary dyskinesia 2 0 trials
- Primary ciliary dyskinesia 20 0 trials
- Primary ciliary dyskinesia 21 0 trials
- Primary ciliary dyskinesia 22 0 trials
- Primary ciliary dyskinesia 23 0 trials
- Primary ciliary dyskinesia 24 0 trials
- Primary ciliary dyskinesia 25 0 trials
- Primary ciliary dyskinesia 26 0 trials
- Primary ciliary dyskinesia 27 0 trials
- Primary ciliary dyskinesia 28 0 trials
- Primary ciliary dyskinesia 29 0 trials
- Primary ciliary dyskinesia 3 0 trials
- Primary ciliary dyskinesia 30 0 trials
- Primary ciliary dyskinesia 32 0 trials
- Primary ciliary dyskinesia 33 0 trials
- Primary ciliary dyskinesia 34 0 trials
- Primary ciliary dyskinesia 35 0 trials
- Primary ciliary dyskinesia 4 0 trials
- Primary ciliary dyskinesia 5 0 trials
- Primary ciliary dyskinesia 6 0 trials
- Primary ciliary dyskinesia 7 0 trials
- Primary ciliary dyskinesia 8 0 trials
- Primary ciliary dyskinesia 9 0 trials
Dialysis disequilibrium syndrome 33 trials
Eosinophilic granulomatosis with polyangiitis 33 trials
Exfoliation syndrome 32 trials
Prader-Willi syndrome 31 trials
5 sub-types
- Prader-Willi syndrome due to imprinting mutation 0 trials
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
- Prader-Willi syndrome due to paternal 15q11q13 deletion 0 trials Sub-types →
- Prader-Willi syndrome due to translocation 0 trials
- Schaaf-Yang syndrome 0 trials
Rett syndrome 31 trials
Complex regional pain syndrome type 1 31 trials
Acute chest syndrome 30 trials
Polymyalgia rheumatica 30 trials
Syndromic congenital heart disease 0 trials · 30 incl. sub-types
8 sub-types
- NOTCH1-related AOS spectrum disorder 0 trials · 16 incl. sub-types Sub-types →
- Hypoplastic left heart syndrome 9 trials Sub-types →
- Left ventricular noncompaction 3 trials · 4 incl. sub-types Sub-types →
- Dextrocardia 1 trial
- Char syndrome 0 trials
- Atrial septal defect, coronary sinus type 0 trials
- Congenital heart disease with heterotaxy syndrome 0 trials
- Scimitar syndrome 0 trials
Long QT syndrome 22 trials · 29 incl. sub-types
1 sub-type
- Familial long QT syndrome 1 trial · 11 incl. sub-types Sub-types →
Turner syndrome 28 trials
3 sub-types
- Turner syndrome due to structural X chromosome anomalies 0 trials
- Mixed gonadal dysgenesis 0 trials
- Monosomy X 0 trials Sub-types →
Corticobasal degeneration disorder 28 trials
Familial developmental dysphasia 28 trials
Takayasu arteritis 27 trials
Posterior leukoencephalopathy syndrome 27 trials
Lennox-Gastaut syndrome 26 trials · 27 incl. sub-types
3 sub-types
- Developmental and epileptic encephalopathy 94 1 trial
- Developmental and epileptic encephalopathy, 31A 0 trials
- Developmental and epileptic encephalopathy, 43 0 trials
Piriformis syndrome 25 trials
Mucopolysaccharidosis type 2 24 trials
2 sub-types
- Mucopolysaccharidosis type 2, severe form 1 trial
- Mucopolysaccharidosis type 2, attenuated form 0 trials
Post-cardiac arrest syndrome 24 trials
Noonan syndrome 21 trials · 24 incl. sub-types
14 sub-types
- Noonan syndrome 3 2 trials
- Noonan syndrome 5 1 trial
- Noonan syndrome 1 0 trials
- Noonan syndrome 10 0 trials
- Noonan syndrome 11 0 trials
- Noonan syndrome 13 0 trials
- Noonan syndrome 14 0 trials
- Noonan syndrome 2 0 trials
- Noonan syndrome 4 0 trials
- Noonan syndrome 6 0 trials
- Noonan syndrome 7 0 trials
- Noonan syndrome 8 0 trials
- Noonan syndrome 9 0 trials
- Noonan syndrome 12 0 trials
Central sleep apnea syndrome 21 trials · 23 incl. sub-types
5 sub-types
- Central sleep apnea caused by high altitude 1 trial
- Central sleep apnea due to periodic breathing 1 trial
- Complex sleep apnea 1 trial
- Drug induced central sleep apnea 1 trial
- Primary central sleep apnea syndrome 0 trials
Sick sinus syndrome 22 trials
1 sub-type
- Familial sick sinus syndrome 0 trials Sub-types →
Syndromic craniosynostosis 1 trial · 22 incl. sub-types
40 sub-types
- Acrocephalosyndactyly 0 trials · 13 incl. sub-types Sub-types →
- Crouzon syndrome-acanthosis nigricans syndrome 4 trials
- Antley-Bixler syndrome 2 trials Sub-types →
- Muenke syndrome 2 trials
- Crouzon syndrome 1 trial Sub-types →
- Shprintzen-Goldberg syndrome 1 trial
- Pseudoaminopterin syndrome 1 trial
- Baller-Gerold syndrome 0 trials
- Beare-Stevenson cutis gyrata syndrome 0 trials
- C syndrome 0 trials
- Curry-Jones syndrome 0 trials
- Hunter-McAlpine craniosynostosis 0 trials
- Lowry-MacLean syndrome 0 trials
- Summitt syndrome 0 trials
- TCF12-related craniosynostosis 0 trials
- Weiss-Kruszka syndrome 0 trials
- X-linked intellectual disability-plagiocephaly syndrome 0 trials
- Acrocephalopolydactyly 0 trials
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
- Cardiocranial syndrome, Pfeiffer type 0 trials
- Cloverleaf skull-asphyxiating thoracic dysplasia syndrome 0 trials
- Cloverleaf skull-multiple congenital anomalies syndrome 0 trials
- Cranioectodermal dysplasia 0 trials Sub-types →
- Craniomicromelic syndrome 0 trials
- Craniosynostosis 2 0 trials
- Craniosynostosis 4 0 trials
- Craniosynostosis and dental anomalies 0 trials
- Craniosynostosis, Herrmann-Opitz type 0 trials
- Craniosynostosis, Philadelphia type 0 trials
- Craniosynostosis-anal anomalies-porokeratosis syndrome 0 trials
- Craniosynostosis-cataract syndrome 0 trials
- Craniosynostosis-fibular aplasia syndrome 0 trials
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 0 trials
- Craniosynostosis-intracranial calcifications syndrome 0 trials
- Craniotelencephalic dysplasia 0 trials
- Familial scaphocephaly syndrome 0 trials Sub-types →
- Holoprosencephaly-craniosynostosis syndrome 0 trials
- Lethal occipital encephalocele-skeletal dysplasia syndrome 0 trials
- Osteosclerosis-developmental delay-craniosynostosis syndrome 0 trials
- Trigonocephaly-broad thumbs syndrome 0 trials
Marfan syndrome 21 trials
1 sub-type
- Neonatal Marfan syndrome 0 trials
Cardiovascular-kidney-metabolic syndrome 21 trials
Persian gulf syndrome 20 trials
Paraneoplastic syndrome 1 trial · 20 incl. sub-types
8 sub-types
- Paraneoplastic neurologic syndrome 1 trial · 15 incl. sub-types Sub-types →
- Parneoplastic endocrine syndrome 0 trials · 11 incl. sub-types Sub-types →
- Paraneoplastic hematological syndrome 0 trials · 9 incl. sub-types Sub-types →
- Paraneoplastic renal syndrome 0 trials · 3 incl. sub-types Sub-types →
- Bilateral diffuse uveal melanocytic proliferation disease 0 trials
- Paraneoplastic cutaneous syndrome 0 trials Sub-types →
- Paraneoplastic gastrointestinal syndrome 0 trials
- Paraneoplastic rheumatic syndrome 0 trials
Angelman syndrome 19 trials
4 sub-types
- Angelman syndrome due to a point mutation 0 trials
- Angelman syndrome due to imprinting defect in 15q11-q13 0 trials
- Angelman syndrome due to maternal 15q11q13 deletion 0 trials
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 0 trials
Evans syndrome 19 trials
Atypical hemolytic-uremic syndrome 19 trials
4 sub-types
Dumping syndrome 19 trials
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types
3 sub-types
Infantile spasms 8 trials · 19 incl. sub-types
8 sub-types
- Developmental and epileptic encephalopathy, 2 10 trials
- Developmental and epileptic encephalopathy, 1 2 trials
- Developmental and epileptic encephalopathy, 12 0 trials
- Developmental and epileptic encephalopathy, 15 0 trials
- Developmental and epileptic encephalopathy, 27 0 trials
- Developmental and epileptic encephalopathy, 30 0 trials
- Developmental and epileptic encephalopathy, 40 0 trials
- Developmental and epileptic encephalopathy, 5 0 trials
Williams syndrome 18 trials
Cardio-renal syndrome 18 trials
Complex regional pain syndrome type 2 18 trials
Alport syndrome 17 trials · 18 incl. sub-types
5 sub-types
- X-linked Alport syndrome 3 trials
- Autosomal recessive Alport syndrome 2 trials
- Alport syndrome 3b, autosomal recessive 0 trials
- Autosomal dominant Alport syndrome 0 trials
- Digenic Alport syndrome 0 trials
Mucopolysaccharidosis type 3 7 trials · 18 incl. sub-types
4 sub-types
- Mucopolysaccharidosis type 3A 7 trials
- Mucopolysaccharidosis type 3B 6 trials
- Mucopolysaccharidosis type 3C 2 trials
- Mucopolysaccharidosis type 3D 0 trials
Fetal alcohol syndrome 17 trials
Progressive familial intrahepatic cholestasis 16 trials · 17 incl. sub-types
16 sub-types
- Progressive familial intrahepatic cholestasis type 1 4 trials
- Progressive familial intrahepatic cholestasis type 2 4 trials
- Cholestasis, progressive familial intrahepatic, 4 2 trials
- Progressive familial intrahepatic cholestasis type 3 2 trials
- Cholestasis, progressive familial intrahepatic, 5 1 trial
- Cholestasis, progressive familial intrahepatic, 6 1 trial
- Hereditary North American Indian childhood cirrhosis 1 trial
- MYO5B-related progressive familial intrahepatic cholestasis 0 trials
- Benign recurrent intrahepatic cholestasis type 1 0 trials
- Cholestasis, progressive familial intrahepatic, 10 0 trials
- Cholestasis, progressive familial intrahepatic, 11 0 trials
- Cholestasis, progressive familial intrahepatic, 12 0 trials
- Cholestasis, progressive familial intrahepatic, 13 0 trials
- Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 trials
- Cholestasis, progressive familial intrahepatic, 8 0 trials
- Cholestasis, progressive familial intrahepatic, 9 0 trials
Usher syndrome 14 trials · 16 incl. sub-types
5 sub-types
- Usher syndrome type 1 0 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 2 2 trials · 3 incl. sub-types Sub-types →
- Usher syndrome type 3 0 trials Sub-types →
- Usher syndrome, type 4 0 trials
- Retinitis pigmentosa-deafness syndrome 0 trials
Alagille syndrome 15 trials
3 sub-types
- Alagille syndrome due to 20p12 microdeletion 0 trials
- Alagille syndrome due to a JAG1 point mutation 0 trials
- Alagille syndrome due to a NOTCH2 point mutation 0 trials
Netherton syndrome 15 trials
Arts syndrome 14 trials
Erdheim-Chester disease 14 trials
Compartment syndrome 14 trials
2 sub-types
- Anterior compartment of tibia syndrome 1 trial
- Neonatal compartment syndrome 0 trials
Fetal cytomegalovirus syndrome 14 trials
MELAS syndrome 13 trials · 14 incl. sub-types
10 sub-types
- MELAS syndrome caused by mutation in MTTL1 1 trial
- MELAS syndrome caused by mutation in MTND1 0 trials
- MELAS syndrome caused by mutation in MTND5 0 trials
- MELAS syndrome caused by mutation in MTND6 0 trials
- MELAS syndrome caused by mutation in MTTC 0 trials
- MELAS syndrome caused by mutation in MTTH 0 trials
- MELAS syndrome caused by mutation in MTTK 0 trials
- MELAS syndrome caused by mutation in MTTQ 0 trials
- MELAS syndrome caused by mutation in MTTS1 0 trials
- MELAS syndrome caused by mutation in MTTS2 0 trials
HELLP syndrome 13 trials
Hepatorenal syndrome 13 trials
Familial chylomicronemia syndrome 11 trials · 13 incl. sub-types
5 sub-types
- Familial lipoprotein lipase deficiency 6 trials
- Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase 0 trials
- Familial apolipoprotein C-II deficiency 0 trials
- Hyperlipoproteinemia, type 1D 0 trials
- Lipase deficiency, combined 0 trials
Stiff-person syndrome 12 trials
3 sub-types
- Classic stiff person syndrome 0 trials
- Focal stiff limb syndrome 0 trials
- Progressive encephalomyelitis with rigidity and myoclonus 0 trials
Syndromic oculocutaneous albinism 0 trials · 12 incl. sub-types
4 sub-types
- Chediak-Higashi syndrome 9 trials
- Hermansky-Pudlak syndrome 4 trials Sub-types →
- Griscelli syndrome 2 trials · 3 incl. sub-types Sub-types →
- Oculocerebral hypopigmentation syndrome, Cross type 0 trials
Simpson-Golabi-Behmel syndrome 11 trials
2 sub-types
- Simpson-Golabi-Behmel syndrome type 1 0 trials
- Simpson-Golabi-Behmel syndrome type 2 0 trials
Thoracic outlet syndrome 11 trials
3 sub-types
- Arterial thoracic outlet syndrome 0 trials
- Neurogenic thoracic outlet syndrome 0 trials
- Venous thoracic outlet syndrome 0 trials
Autoimmune polyendocrinopathy 3 trials · 11 incl. sub-types
4 sub-types
- Autoimmune polyendocrine syndrome type 1 8 trials
- Autoimmune polyendocrinopathy type 2 1 trial
- Autoimmune polyendocrinopathy type 3 1 trial
- Autoimmune polyendocrinopathy type 4 0 trials
Syndromic microphthalmia 0 trials · 11 incl. sub-types
19 sub-types
- Matthew-Wood syndrome 5 trials
- Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
- COFS syndrome 1 trial Sub-types →
- MMEP syndrome 1 trial
- Behrens Baumann dust syndrome 0 trials
- RAB18 deficiency 0 trials Sub-types →
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
- Colobomatous microphthalmia-rhizomelic dysplasia syndrome 0 trials
- Linear skin defects with multiple congenital anomalies 0 trials Sub-types →
- Microphthalmia microtia fetal akinesia 0 trials
- Microphthalmia with brain and digit anomalies 0 trials
- Microphthalmia, Lenz type 0 trials
- Microphthalmia, syndromic 1 0 trials
- Microphthalmia, syndromic 11 0 trials
- Microphthalmia, syndromic 12 0 trials
- Microphthalmia, syndromic 2 0 trials
- Microphthalmia-brain atrophy syndrome 0 trials
- Oculoauricular syndrome 0 trials
- Syndromic microphthalmia type 5 0 trials
Brugada syndrome 10 trials
9 sub-types
- Brugada syndrome 1 0 trials
- Brugada syndrome 2 0 trials
- Brugada syndrome 3 0 trials
- Brugada syndrome 4 0 trials
- Brugada syndrome 5 0 trials
- Brugada syndrome 6 0 trials
- Brugada syndrome 7 0 trials
- Brugada syndrome 8 0 trials
- Brugada syndrome 9 0 trials
Marinesco-Sjogren syndrome 10 trials
Phelan-McDermid syndrome 10 trials
2 sub-types
- Phelan-McDermid syndrome due to SHANK3 mutation 3 trials
- Phelan-McDermid syndrome due to 22q13.3 deletion 0 trials
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
Post-infectious syndrome 5 trials · 10 incl. sub-types
3 sub-types
- KSHV inflammatory cytokine syndrome 4 trials
- Zika virus congenital syndrome 1 trial
- TORCH syndrome 0 trials
Mucopolysaccharidosis type 4 2 trials · 10 incl. sub-types
3 sub-types
- Mucopolysaccharidosis type 4A 8 trials
- Morquio syndrome C 0 trials
- Mucopolysaccharidosis type 4B 0 trials
Stevens-Johnson syndrome 9 trials
Burning mouth syndrome 9 trials
1 sub-type
- Burning mouth syndrome type 3 0 trials
Calciphylaxis 9 trials
2 sub-types
- Calciphylaxis cutis 0 trials
- Visceral calciphylaxis 0 trials
Hand-foot syndrome 9 trials
Mayer-Rokitansky-Kuster-Hauser syndrome 8 trials · 9 incl. sub-types
2 sub-types
- Mayer-Rokitansky-Kuster-Hauser syndrome type 1 3 trials
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 0 trials
Sickle cell-beta-thalassemia disease syndrome 5 trials · 9 incl. sub-types
2 sub-types
- Sickle cell-beta zero-thalassemia 6 trials
- Sickle cell-beta plus-thalassemia 5 trials
Leriche syndrome 8 trials
Breast implant illness 8 trials
Developmental and/or epileptic encephalopathy with spike-wave activation in sleep 8 trials
1 sub-type
- GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep 0 trials
Mucopolysaccharidosis type 6 8 trials
2 sub-types
- Mucopolysaccharidosis type 6, rapidly progressing 0 trials
- Mucopolysaccharidosis type 6, slowly progressing 0 trials
Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
IRF6-related condition 0 trials · 8 incl. sub-types
2 sub-types
- Van der Woude syndrome 8 trials Sub-types →
- Popliteal pterygium syndrome 0 trials Sub-types →
Silver-Russell syndrome 7 trials
11 sub-types
- Russell-silver syndrome, X-linked 0 trials
- Silver-Russell syndrome 1 0 trials
- Silver-Russell syndrome 3 0 trials
- Silver-Russell syndrome 5 0 trials
- Silver-Russell syndrome due to 11p15 microduplication 0 trials
- Silver-Russell syndrome due to 7p11.2p13 microduplication 0 trials
- Silver-Russell syndrome due to an imprinting defect of 11p15 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
- Silver-russell syndrome 2 0 trials
- Silver-russell syndrome 4 0 trials
Wolfram syndrome 7 trials
3 sub-types
- Wolfram syndrome 1 1 trial
- Wolfram syndrome 2 0 trials
- Wolfram syndrome, mitochondrial form 0 trials
Cystinuria 7 trials
2 sub-types
- Cystinuria type A 0 trials
- Cystinuria type B 0 trials
Miliaria 7 trials
8 sub-types
- Infantile miliaria 0 trials
- Miliaria alba 0 trials
- Miliaria crystallina 0 trials
- Miliaria papulosa 0 trials
- Miliaria profunda 0 trials
- Miliaria pustulosa 0 trials
- Miliaria rubra 0 trials
- Miliaria vesiculosa 0 trials
Sickle cell-hemoglobin c disease syndrome 7 trials
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types
22 sub-types
- Bardet-Biedl syndrome 1 1 trial
- Bardet-Biedl syndrome 10 0 trials
- Bardet-Biedl syndrome 11 0 trials
- Bardet-Biedl syndrome 12 0 trials
- Bardet-Biedl syndrome 13 0 trials
- Bardet-Biedl syndrome 14 0 trials
- Bardet-Biedl syndrome 15 0 trials
- Bardet-Biedl syndrome 16 0 trials
- Bardet-Biedl syndrome 17 0 trials
- Bardet-Biedl syndrome 18 0 trials
- Bardet-Biedl syndrome 19 0 trials
- Bardet-Biedl syndrome 2 0 trials
- Bardet-Biedl syndrome 20 0 trials
- Bardet-Biedl syndrome 22 0 trials
- Bardet-Biedl syndrome 3 0 trials
- Bardet-Biedl syndrome 4 0 trials
- Bardet-Biedl syndrome 5 0 trials
- Bardet-Biedl syndrome 6 0 trials
- Bardet-Biedl syndrome 7 0 trials
- Bardet-Biedl syndrome 8 0 trials
- Bardet-Biedl syndrome 9 0 trials
- Bardet-biedl syndrome 21 0 trials
Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types
50 sub-types
- Spastic paraplegia, optic atropy, and neuropathy 3 trials
- Hereditary spastic paraplegia 11 1 trial
- Hereditary spastic paraplegia 15 1 trial
- Hereditary spastic paraplegia 26 1 trial
- Hereditary spastic paraplegia 63 1 trial
- MASA syndrome 0 trials
- Troyer syndrome 0 trials
- Autosomal dominant complex spastic paraplegia 0 trials Sub-types →
- Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction 0 trials
- Autosomal recessive complex spastic paraplegia type 9B 0 trials
- Autosomal recessive spastic paraplegia type 59 0 trials
- Autosomal recessive spastic paraplegia type 60 0 trials
- Autosomal recessive spastic paraplegia type 66 0 trials
- Autosomal recessive spastic paraplegia type 67 0 trials
- Autosomal recessive spastic paraplegia type 68 0 trials
- Autosomal recessive spastic paraplegia type 69 0 trials
- Autosomal recessive spastic paraplegia type 70 0 trials
- Autosomal recessive spastic paraplegia type 76 0 trials
- Autosomal recessive spastic paraplegia type 78 0 trials
- Fatty acid hydroxylase-associated neurodegeneration 0 trials
- Glutamate pyruvate transaminase 2 deficiency 0 trials
- Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 trials
- Hereditary spastic paraplegia 18 0 trials Sub-types →
- Hereditary spastic paraplegia 23 0 trials
- Hereditary spastic paraplegia 24 0 trials
- Hereditary spastic paraplegia 25 0 trials
- Hereditary spastic paraplegia 27 0 trials
- Hereditary spastic paraplegia 32 0 trials
- Hereditary spastic paraplegia 39 0 trials Sub-types →
- Hereditary spastic paraplegia 43 0 trials
- Hereditary spastic paraplegia 44 0 trials
- Hereditary spastic paraplegia 45 0 trials
- Hereditary spastic paraplegia 46 0 trials
- Hereditary spastic paraplegia 49 0 trials
- Hereditary spastic paraplegia 53 0 trials
- Hereditary spastic paraplegia 54 0 trials
- Hereditary spastic paraplegia 55 0 trials
- Hereditary spastic paraplegia 57 0 trials
- Hereditary spastic paraplegia 61 0 trials
- Hereditary spastic paraplegia 64 0 trials
- Hereditary spastic paraplegia 74 0 trials
- Hereditary spastic paraplegia 75 0 trials
- Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 0 trials
- Maternally-inherited spastic paraplegia 0 trials
- Spastic ataxia 2 0 trials
- Spastic paraplegia 84, autosomal recessive 0 trials
- Spastic paraplegia 85, autosomal recessive 0 trials
- Spastic paraplegia 86, autosomal recessive 0 trials
- Spastic paraplegia-glaucoma-intellectual disability syndrome 0 trials
- Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
Duane retraction syndrome 6 trials
4 sub-types
- Duane retraction syndrome 2 0 trials
- Duane retraction syndrome 3 with or without deafness 0 trials
- Duane retraction syndrome with congenital deafness 0 trials
- Duane syndrome type 1 0 trials
Hurler syndrome 6 trials
Loeys-Dietz syndrome 6 trials
6 sub-types
- Loeys-Dietz syndrome 1 0 trials
- Loeys-Dietz syndrome 2 0 trials
- Loeys-Dietz syndrome 4 0 trials
- Loeys-Dietz syndrome 6 0 trials
- Rienhoff syndrome 0 trials
- Aneurysm-osteoarthritis syndrome 0 trials
Angioosteohypertrophic syndrome 6 trials
Carcinoid syndrome 6 trials
1 sub-type
- Carcinoid crisis 0 trials
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 6 trials
Tethered spinal cord syndrome 6 trials
DICER1-related tumor predisposition 1 trial · 6 incl. sub-types
2 sub-types
- Pleuropulmonary blastoma 4 trials Sub-types →
- Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 1 trial
Neonatal aspiration syndrome 1 trial · 6 incl. sub-types
2 sub-types
- Meconium aspiration syndrome 5 trials
- Massive neonatal aspiration syndrome 0 trials
Growth hormone insensitivity syndrome 0 trials · 6 incl. sub-types
6 sub-types
- Growth delay due to insulin-like growth factor I resistance 4 trials
- Growth delay due to insulin-like growth factor type 1 deficiency 1 trial
- Growth hormone insensitivity syndrome with immune dysregulation 0 trials · 1 incl. sub-types Sub-types →
- Laron syndrome 0 trials
- Short stature due to partial GHR deficiency 0 trials
- Short stature due to primary acid-labile subunit deficiency 0 trials
CLOVES syndrome 5 trials
Eisenmenger syndrome 5 trials
IMAGe syndrome 5 trials
Kearns-Sayre syndrome 5 trials
MERRF syndrome 5 trials
McCune-Albright syndrome 5 trials
Menkes disease 5 trials
Shwachman-Diamond syndrome 5 trials
3 sub-types
- DNAJC21-related Shwachman Diamond syndrome 0 trials
- Shwachman-Diamond syndrome 1 0 trials
- Shwachman-Diamond syndrome 2 0 trials
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 5 trials
Cerebellar ataxia, intellectual disability, and dysequilibrium 5 trials
4 sub-types
Congenital myasthenic syndrome 5 trials
8 sub-types
- Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types Sub-types →
- Presynaptic congenital myasthenic syndrome 0 trials · 1 incl. sub-types Sub-types →
- Congenital myasthenic syndrome 15 0 trials
- Congenital myasthenic syndrome 5 0 trials
- Congenital myasthenic syndrome with tubular aggregates 0 trials Sub-types →
- Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
- Myasthenic syndrome, congenital, 22 0 trials
- Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials
Craniofacial microsomia 5 trials
2 sub-types
- Craniofacial microsomia 1 0 trials
- Craniofacial microsomia 2 0 trials
Drug rash with eosinophilia and systemic symptoms 5 trials
Pelvis syndrome 5 trials
Cornelia de Lange syndrome 4 trials · 5 incl. sub-types
6 sub-types
- Cornelia de Lange syndrome 1 1 trial
- Cornelia de Lange syndrome 2 0 trials
- Cornelia de Lange syndrome 3 0 trials
- Cornelia de Lange syndrome 4 0 trials
- Cornelia de Lange syndrome 5 0 trials
- Cornelia de Lange syndrome 6 0 trials
Boerhaave syndrome 4 trials
CHARGE syndrome 4 trials
1 sub-type
- CHD7-related CHARGE syndrome 0 trials
Fanconi renotubular syndrome 4 trials
4 sub-types
- Deal Barratt Dillon syndrome 0 trials
- Acquired Fanconi syndrome 0 trials Sub-types →
- Adult Fanconi syndrome 0 trials
- Inherited Fanconi renotubular syndrome 0 trials Sub-types →
SUNCT syndrome 4 trials
Mitochondrial neurogastrointestinal encephalomyopathy 4 trials
4 sub-types
- Mitochondrial DNA depletion syndrome 1 0 trials
- Mitochondrial DNA depletion syndrome 20 (mngie type) 0 trials
- Mitochondrial DNA depletion syndrome 4b 0 trials
- Mitochondrial DNA depletion syndrome 8a 0 trials
Nephronophthisis 1 4 trials
Trisomy 13 4 trials
2 sub-types
- Complete trisomy 13 0 trials
- Mosaic trisomy 13 0 trials
Stickler syndrome 2 trials · 4 incl. sub-types
5 sub-types
- Stickler syndrome type 1 3 trials Sub-types →
- Stickler syndrome type 2 2 trials
- Stickler syndrome, type 4 0 trials
- Stickler syndrome, type 5 0 trials
- Stickler syndrome, type 6 0 trials
Kenny-Caffey syndrome 0 trials · 4 incl. sub-types
2 sub-types
- Autosomal recessive Kenny-Caffey syndrome 4 trials
- Autosomal dominant Kenny-Caffey syndrome 0 trials
Hypoplastic right heart syndrome 0 trials · 4 incl. sub-types
2 sub-types
- Pulmonary atresia-intact ventricular septum syndrome 4 trials
- Isolated right ventricular hypoplasia 0 trials
Barre-Lieou syndrome 3 trials
Hutchinson-Gilford progeria syndrome 3 trials
Kallmann syndrome 3 trials
18 sub-types
- Hypogonadotropic hypogonadism 1 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 11 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 14 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 15 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 16 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 17 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 18 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 19 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 2 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 20 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 21 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 22 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 3 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 4 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 5 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 6 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 8 with or without anosmia 0 trials
- Hypogonadotropic hypogonadism 9 with or without anosmia 0 trials
Noonan syndrome with multiple lentigines 3 trials
3 sub-types
- LEOPARD syndrome 1 0 trials
- LEOPARD syndrome 2 0 trials
- LEOPARD syndrome 3 0 trials
Pearson syndrome 3 trials
Pitt-Hopkins syndrome 3 trials
Cannabinoid hyperemesis syndrome 3 trials
Facial hemiatrophy 3 trials
Hereditary alpha tryptasemia syndrome 3 trials
Mitochondrial DNA depletion syndrome 4a 3 trials
Oculocerebrorenal syndrome 3 trials
Ornithine translocase deficiency 3 trials
Triple-A syndrome 3 trials
Trisomy 18 3 trials
2 sub-types
- Complete trisomy 18 0 trials
- Mosaic trisomy 18 0 trials
Trisomy X 3 trials
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 1 trial · 3 incl. sub-types
4 sub-types
Iridocorneal endothelial syndrome 1 trial · 3 incl. sub-types
3 sub-types
- Chandler syndrome 2 trials
- Cogan-Reese syndrome 0 trials
- Essential iris atrophy 0 trials
Aicardi syndrome 2 trials
Birt-Hogg-Dube syndrome 2 trials
2 sub-types
- Birt-Hogg-Dube syndrome 1 0 trials
- Birt-Hogg-Dube syndrome 2 0 trials
Charles bonnet syndrome 2 trials
Cri-du-chat syndrome 2 trials
Hurler-Scheie syndrome 2 trials
Joubert syndrome 2 trials
39 sub-types
- Joubert syndrome 1 0 trials
- Joubert syndrome 10 0 trials
- Joubert syndrome 11 0 trials
- Joubert syndrome 13 0 trials
- Joubert syndrome 14 0 trials
- Joubert syndrome 15 0 trials
- Joubert syndrome 16 0 trials
- Joubert syndrome 17 0 trials Sub-types →
- Joubert syndrome 18 0 trials
- Joubert syndrome 19 0 trials
- Joubert syndrome 2 0 trials
- Joubert syndrome 20 0 trials
- Joubert syndrome 21 0 trials
- Joubert syndrome 22 0 trials
- Joubert syndrome 23 0 trials
- Joubert syndrome 24 0 trials
- Joubert syndrome 25 0 trials
- Joubert syndrome 26 0 trials
- Joubert syndrome 27 0 trials
- Joubert syndrome 28 0 trials
- Joubert syndrome 29 0 trials
- Joubert syndrome 3 0 trials
- Joubert syndrome 30 0 trials
- Joubert syndrome 31 0 trials
- Joubert syndrome 32 0 trials
- Joubert syndrome 33 0 trials
- Joubert syndrome 34 0 trials
- Joubert syndrome 35 0 trials
- Joubert syndrome 36 0 trials
- Joubert syndrome 37 0 trials
- Joubert syndrome 38 0 trials
- Joubert syndrome 39 0 trials
- Joubert syndrome 40 0 trials
- Joubert syndrome 5 0 trials
- Joubert syndrome 6 0 trials
- Joubert syndrome 7 0 trials
- Joubert syndrome 8 0 trials
- Joubert syndrome 9 0 trials
- Joubert syndrome with renal defect 0 trials
Kabuki syndrome 2 trials
2 sub-types
- Kabuki syndrome 1 0 trials
- Kabuki syndrome 2 0 trials
Mobius syndrome 2 trials
1 sub-type
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0 trials
Poland syndrome 2 trials
Susac syndrome 2 trials
Werner syndrome 2 trials
Acrocallosal syndrome 2 trials
Cauda equina syndrome 2 trials
1 sub-type
- Cauda equina syndrome with neurogenic bladder 0 trials
Celiac trunk compression syndrome 2 trials
Congenital cardiovascular shunt 2 trials
Craniofacial and skeletal defects 2 trials
Dilated cardiomyopathy 1A 2 trials
Engraftment syndrome 2 trials
Enlarged vestibular aqueduct syndrome 2 trials
Gas bloat syndrome 2 trials
Hantavirus pulmonary syndrome 2 trials
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 2 trials
Jaw-winking syndrome 2 trials
2 sub-types
- Marin-Amat syndrome 0 trials
- Inverse Marcus-Gunn phenomenon 0 trials
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2 trials
Nail-patella syndrome 2 trials
Polydactyly-myopia syndrome 2 trials
Retrograde cricopharyngeus dysfunction 2 trials
Superior mesenteric artery syndrome 2 trials
Superior vena cava syndrome 2 trials
Sweet syndrome 2 trials
Vertebral artery insufficiency 2 trials
Xeroderma pigmentosum-Cockayne syndrome complex 1 trial · 2 incl. sub-types
6 sub-types
- Xeroderma pigmentosum group F 1 trial
- Xeroderma pigmentosum group B 0 trials
- Xeroderma pigmentosum group D 0 trials
- Xeroderma pigmentosum group G 0 trials
- Xeroderma pigmentosum, type F/Cockayne syndrome 0 trials
- Xeroderma pigmentosum, type G/Cockayne syndrome 0 trials
Pallister-Hall syndrome 0 trials · 2 incl. sub-types
1 sub-type
- Congenital hypothalamic hamartoma syndrome 2 trials
Disappearing bone disease 0 trials · 2 incl. sub-types
2 sub-types
- Gorham-Stout disease 2 trials
- Acroosteolysis dominant type 0 trials
Short rib-polydactyly syndrome 0 trials · 2 incl. sub-types
4 sub-types
- Jeune syndrome 1 trial · 2 incl. sub-types Sub-types →
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy 0 trials Sub-types →
- Cranioectodermal dysplasia 0 trials Sub-types →
- Short rib-polydactyly syndrome, Majewski type 0 trials Sub-types →
Aagenaes syndrome 1 trial
Adams-Stokes syndrome 1 trial
Alstrom syndrome 1 trial
Axenfeld-Rieger syndrome 1 trial
3 sub-types
- Axenfeld-Rieger syndrome type 3 1 trial
- Axenfeld-Rieger syndrome type 1 0 trials
- Axenfeld-Rieger syndrome type 2 0 trials
BNAR syndrome 1 trial
Capgras syndrome 1 trial
Caroli syndrome 1 trial
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 1 trial
Coffin-Siris syndrome 1 trial
11 sub-types
- Coffin-Siris syndrome 1 0 trials
- Coffin-Siris syndrome 10 0 trials
- Coffin-Siris syndrome 11 0 trials
- Coffin-Siris syndrome 12 0 trials
- Coffin-Siris syndrome 5 0 trials
- Coffin-Siris syndrome 7 0 trials
- Coffin-Siris syndrome 8 0 trials
- Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 trials
- Intellectual disability, autosomal dominant 14 0 trials
- Intellectual disability, autosomal dominant 15 0 trials
- Intellectual disability, autosomal dominant 16 0 trials
Currarino triad 1 trial
DNA ligase IV deficiency 1 trial
Denys-Drash syndrome 1 trial
Duane-radial ray syndrome 1 trial
2 sub-types
- Okihiro syndrome due to 20q13 microdeletion 0 trials
- Okihiro syndrome due to a point mutation 0 trials
EEC syndrome 1 trial
2 sub-types
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0 trials
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
Freeman-Sheldon syndrome 1 trial
1 sub-type
- Whistling face syndrome, recessive form 0 trials
Fryns syndrome 1 trial
German syndrome 1 trial
Holmes-Adie syndrome 1 trial
Joubert syndrome with oculorenal defect 1 trial
5 sub-types
- Joubert syndrome 14 0 trials
- Joubert syndrome 16 0 trials
- Joubert syndrome 2 0 trials
- Joubert syndrome 5 0 trials
- Joubert syndrome 9 0 trials
Lesch-Nyhan syndrome 1 trial
1 sub-type
- Lesch-Nyhan phenotype with normal HGPRT 0 trials
Liddle syndrome 1 trial
3 sub-types
- Liddle syndrome 1 0 trials
- Liddle syndrome 2 0 trials
- Liddle syndrome 3 0 trials
MPI-congenital disorder of glycosylation 1 trial
Meier-Gorlin syndrome 1 trial
9 sub-types
- Meier-Gorlin syndrome 1 0 trials
- Meier-Gorlin syndrome 2 0 trials
- Meier-Gorlin syndrome 3 0 trials
- Meier-Gorlin syndrome 4 0 trials
- Meier-Gorlin syndrome 5 0 trials
- Meier-Gorlin syndrome 6 0 trials
- Meier-Gorlin syndrome 7 0 trials
- Meier-Gorlin syndrome 8 0 trials
- Meier-Gorlin syndrome 9 0 trials
Potocki-Lupski syndrome 1 trial
Potter sequence 1 trial
RHYNS syndrome 1 trial
RNU4ATAC spectrum disorder 1 trial
3 sub-types
- Lowry-Wood syndrome 1 trial
- Roifman syndrome 1 trial
- Microcephalic osteodysplastic primordial dwarfism type I 1 trial
Reunion island Larsen syndrome 1 trial
Scheie syndrome 1 trial
Sotos syndrome 1 trial
Tolosa-Hunt syndrome 1 trial
Waardenburg syndrome 1 trial
5 sub-types
- Waardenburg syndrome type 1 1 trial
- Waardenburg syndrome type 2 1 trial Sub-types →
- Waardenburg syndrome type 3 0 trials
- Waardenburg syndrome, IIa 2F 0 trials
- Waardenburg-Shah syndrome 0 trials Sub-types →
Wernicke-Korsakoff syndrome 1 trial
1 sub-type
- Alcohol-induced Wernicke-Korsakoff's syndrome 0 trials
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
Acute radiation syndrome 1 trial
Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial
2 sub-types
- Arthrogryposis, renal dysfunction, and cholestasis 1 0 trials
- Arthrogryposis, renal dysfunction, and cholestasis 2 0 trials
Atlanto-axial fusion 1 trial
Bidirectional tachycardia 1 trial
Capillary leak syndrome 1 trial
Cleidocranial dysplasia 1 1 trial
Congenital amputation 1 trial
Congenital insensitivity to pain syndrome, Marsili type 1 trial
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 trial
Craniofrontonasal syndrome 1 trial
Deafness-infertility syndrome 1 trial
Deafness-lymphedema-leukemia syndrome 1 trial
Epidermal nevus syndrome 1 trial
Epilepsy with myoclonic atonic seizures 1 trial
Gastrointestinal defects and immunodeficiency syndrome 1 1 trial
Human HOXA1 syndromes 1 trial
1 sub-type
- Bosley-Salih-Alorainy syndrome 0 trials
Hypoparathyroidism-deafness-renal disease syndrome 1 trial
Ichthyosis prematurity syndrome 1 trial
Levator syndrome 1 trial
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 trial
Metaphyseal chondrodysplasia, Jansen type 1 trial
Microtia with meatal atresia and conductive deafness 1 trial
Monoclonal mast cell activation syndrome 1 trial
Neuroleptic malignant syndrome 1 trial
Orofaciodigital syndrome I 1 trial
Palindromic rheumatism 1 trial
Pituitary stalk interruption syndrome 1 trial
Postaxial acrofacial dysostosis 1 trial
Prune belly syndrome 1 trial
Septooptic dysplasia 1 trial
2 sub-types
- Congenital absence of septum pellucidum 0 trials
- Pagon stephan syndrome 0 trials
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 1 trial
Subclavian steal syndrome 1 trial
Tarsal tunnel syndrome 1 trial
Thalidomide embryopathy 1 trial
Thrombocytopenia-absent radius syndrome 1 trial
Visceral heterotaxy 1 trial
19 sub-types
- Dextrocardia 1 trial
- Situs inversus 1 trial Sub-types →
- Heterotaxy, visceral, 1, X-linked 0 trials
- Heterotaxy, visceral, 10, autosomal, with male infertility 0 trials
- Heterotaxy, visceral, 11, autosomal, with male infertility 0 trials
- Heterotaxy, visceral, 12, autosomal 0 trials
- Heterotaxy, visceral, 13, autosomal 0 trials
- Heterotaxy, visceral, 14, autosomal 0 trials
- Heterotaxy, visceral, 2, autosomal 0 trials
- Heterotaxy, visceral, 3, autosomal 0 trials
- Heterotaxy, visceral, 4, autosomal 0 trials
- Heterotaxy, visceral, 5, autosomal 0 trials
- Heterotaxy, visceral, 6, autosomal 0 trials
- Heterotaxy, visceral, 7, autosomal 0 trials
- Heterotaxy, visceral, 8, autosomal 0 trials
- Heterotaxy, visceral, 9, autosomal, with male infertility 0 trials
- Laterality defects, autosomal dominant 0 trials
- Levocardia 0 trials
- Right atrial isomerism 0 trials
Meckel syndrome 0 trials · 1 incl. sub-types
14 sub-types
- Meckel syndrome, type 1 1 trial
- Meckel syndrome 13 0 trials
- Meckel syndrome, type 10 0 trials
- Meckel syndrome, type 11 0 trials
- Meckel syndrome, type 2 0 trials
- Meckel syndrome, type 3 0 trials
- Meckel syndrome, type 4 0 trials
- Meckel syndrome, type 5 0 trials
- Meckel syndrome, type 6 0 trials
- Meckel syndrome, type 8 0 trials
- Meckel syndrome, type 9 0 trials
- NPHP3-related Meckel-like syndrome 0 trials
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
- Meckel syndrome 14 0 trials
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types
3 sub-types
- Thyroid cancer, nonmedullary, 1 1 trial
- Brain-lung-thyroid syndrome 0 trials
- Hereditary progressive chorea without dementia 0 trials
Seckel syndrome 0 trials · 1 incl. sub-types
12 sub-types
- Seckel syndrome 7 1 trial
- Seckel syndrome 1 0 trials
- Seckel syndrome 10 0 trials
- Seckel syndrome 11 0 trials
- Seckel syndrome 2 0 trials
- Seckel syndrome 4 0 trials
- Seckel syndrome 5 0 trials
- Seckel syndrome 6 0 trials
- Seckel syndrome 8 0 trials
- Seckel syndrome 9 0 trials
- Intrauterine growth retardation with increased mitomycin c sensitivity 0 trials
- Microcephaly 13, primary, autosomal recessive 0 trials
Microcephalic osteodysplastic primordial dwarfism types I and III 0 trials · 1 incl. sub-types
2 sub-types
- Microcephalic osteodysplastic primordial dwarfism type I 1 trial
- Microcephalic osteodysplastic primordial dwarfism, type 3 0 trials
3-M syndrome 0 trials
3 sub-types
- 3M syndrome 1 0 trials
- 3M syndrome 2 0 trials
- 3M syndrome 3 0 trials
46,XX disorder of sex development-anorectal anomalies syndrome 0 trials
48,XXXY syndrome 0 trials
48,XXYY syndrome 0 trials
48,XYYY syndrome 0 trials
49,XXXXY syndrome 0 trials
6q terminal deletion syndrome 0 trials
8p23.1 microdeletion syndrome 0 trials
AIDS dysmorphic syndrome 0 trials
ANE syndrome 0 trials
Abruzzo-Erickson syndrome 0 trials
Achard syndrome 0 trials
Achard-Thiers syndrome 0 trials
Achenbach syndrome 0 trials
Acrootoocular syndrome 0 trials
Ahumada Del Castillo syndrome 0 trials
Aksu von Stockhausen syndrome 0 trials
Al-Gazali syndrome 0 trials
Alfadhel syndrome 0 trials
Alice in Wonderland syndrome 0 trials
Alkuraya-Kucinskas syndrome 0 trials
Aloi Tomasini Isaia syndrome 0 trials
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 0 trials
1 sub-type
- Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 trials
Alsahan-Harris syndrome 0 trials
Apert-like polydactyly syndrome 0 trials
Armfield syndrome 0 trials
Arnold stickler bourne syndrome 0 trials
Atkin-Flaitz syndrome 0 trials
Ayme-Gripp syndrome 0 trials
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 trials
BD syndrome 0 trials
BRESEK syndrome 0 trials
Bamforth-Lazarus syndrome 0 trials
Baraitser-Winter cerebrofrontofacial syndrome 0 trials
2 sub-types
- Baraitser-Winter syndrome 1 0 trials
- Baraitser-winter syndrome 2 0 trials
Barnicoat Baraitser syndrome 0 trials
Bartter syndrome 0 trials
6 sub-types
- Bartter disease type 1 0 trials
- Bartter disease type 2 0 trials
- Bartter disease type 3 0 trials
- Bartter disease type 5 0 trials
- Bartter syndrome type 4 0 trials Sub-types →
- Bartter syndrome with hypocalcemia 0 trials
Basedow's coma 0 trials
Basilicata-Akhtar syndrome 0 trials
Beardwell syndrome 0 trials
Bencze syndrome 0 trials
Bernard-Soulier syndrome 0 trials
1 sub-type
- Bernard-Soulier syndrome, type A2, autosomal dominant 0 trials
Bloom syndrome 0 trials
Bonnemann-Meinecke-Reich syndrome 0 trials
Bonnevie-Ullrich syndrome 0 trials
Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
Brown-Sequard syndrome 0 trials
Bruck syndrome 0 trials
2 sub-types
- Bruck syndrome 1 0 trials
- Bruck syndrome 2 0 trials
Brunsting-Perry syndrome 0 trials
Buschke-Ollendorff syndrome 0 trials
CADDS 0 trials
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 0 trials
CEDNIK syndrome 0 trials
CODAS syndrome 0 trials
COG1-congenital disorder of glycosylation 0 trials
COG5-congenital disorder of glycosylation 0 trials
CREST syndrome 0 trials
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 0 trials
3 sub-types
- Cataract 16 multiple types 0 trials Sub-types →
- Dilated cardiomyopathy 1II 0 trials
- Myofibrillar myopathy 2 0 trials
Camurati-Engelmann disease 0 trials
2 sub-types
- Camurati-Engelmann disease type 1 0 trials
- Camurati-Engelmann disease type 2 0 trials
Cantu Sanchez-Corona Fragoso syndrome 0 trials
Cantu Sanchez-Corona Garcia-Cruz syndrome 0 trials
Cantu Sanchez-Corona Hernandez syndrome 0 trials
Carnevale hernandez castillo syndrome 0 trials
Cartwright Nelson Fryns syndrome 0 trials
Cerebrorenodigital syndrome 0 trials
Christian Demyer Franken syndrome 0 trials
Christian Johnson angenieta syndrome 0 trials
Christianson syndrome 0 trials
Cohen Lockood Wyborney syndrome 0 trials
Cole-Carpenter syndrome 0 trials
2 sub-types
- Cole-Carpenter syndrome 1 0 trials
- Cole-Carpenter syndrome 2 0 trials
Collins-Sakati syndrome 0 trials
Colver Steer Godman syndrome 0 trials
Combarros Calleja Leno syndrome 0 trials
Cormier Rustin Munnich syndrome 0 trials
Cortes Lacassie syndrome 0 trials
Cramp-fasciculation syndrome 0 trials
Crandall syndrome 0 trials
Crigler-Najjar syndrome 0 trials
2 sub-types
- Crigler-Najjar syndrome type 1 0 trials
- Crigler-Najjar syndrome type 2 0 trials
Czeizel-Losonci syndrome 0 trials
DK1-congenital disorder of glycosylation 0 trials
DOORS syndrome 0 trials
Davenport-Donlan syndrome 0 trials
Davis Lafer syndrome 0 trials
Dennis-Fairhurst-Moore syndrome 0 trials
Diamond-Blackfan anemia 2 0 trials
Donohue syndrome 0 trials
Drachtman Weinblatt Sitarz syndrome 0 trials
Duane anomaly-myopathy-scoliosis syndrome 0 trials
Dubin-Johnson syndrome 0 trials
Duker-Weiss-Siber syndrome 0 trials
Dursun syndrome 0 trials
Dursun-Ozgul neurodevelopmental syndrome 0 trials
Dyggve-Melchior-Clausen disease 0 trials
1 sub-type
- Dyggve-Melchior-Clausen syndrome, X-linked 0 trials
EDICT syndrome 0 trials
Eagle syndrome 0 trials
Elliott ludman Teebi syndrome 0 trials
Elsahy-Waters syndrome 0 trials
Engelhard Yatziv syndrome 0 trials
FG syndrome 0 trials
6 sub-types
- Aarskog-Scott syndrome, X-linked 0 trials
- FG syndrome 1 0 trials
- FG syndrome 2 0 trials
- FG syndrome 3 0 trials
- FG syndrome 4 0 trials
- FG syndrome 5 0 trials
FICUS syndrome 0 trials
FRAXF syndrome 0 trials
Fanconi-like syndrome 0 trials
1 sub-type
- FANCM Fanconi-like genomic instability disorder 0 trials
Faye-Petersen-Ward-Carey syndrome 0 trials
Feingold syndrome 0 trials
2 sub-types
- Feingold syndrome type 1 0 trials
- Feingold syndrome type 2 0 trials
Feingold trainer syndrome 0 trials
Felty syndrome 0 trials
Finnish type amyloidosis 0 trials
Fitz-Hugh-Curtis syndrome 0 trials
Fliedner-Zweier syndrome 0 trials
Fontaine farriaux blanckaert syndrome 0 trials
Frank-Ter Haar syndrome 0 trials
Fraser Jequier Chen syndrome 0 trials
Fraser syndrome 0 trials
3 sub-types
- Fraser syndrome 1 0 trials
- Fraser syndrome 2 0 trials
- Fraser syndrome 3 0 trials
Frasier syndrome 0 trials
Freiberg disease 0 trials
Friedman Goodman syndrome 0 trials
Froelich syndrome 0 trials
Fryns Fabry Remans syndrome 0 trials
Fryns Smeets Thiry syndrome 0 trials
Fuchs atrophia gyrata chorioideae et retinae 0 trials
Fuchs heterochromic iridocyclitis 0 trials
Fukuda-Miyanomae-Nakata syndrome 0 trials
Fuqua Berkovitz syndrome 0 trials
GMS syndrome 0 trials
Galloway-Mowat syndrome 0 trials
10 sub-types
- Galloway-Mowat syndrome 1 0 trials
- Galloway-Mowat syndrome 10 0 trials
- Galloway-Mowat syndrome 2, X-linked 0 trials
- Galloway-Mowat syndrome 3 0 trials
- Galloway-Mowat syndrome 4 0 trials
- Galloway-Mowat syndrome 5 0 trials
- Galloway-Mowat syndrome 6 0 trials
- Galloway-Mowat syndrome 7 0 trials
- Galloway-Mowat syndrome 8 0 trials
- Galloway-Mowat syndrome 9 0 trials
Gamstorp-Wohlfart syndrome 0 trials
Garret-Tripp syndrome 0 trials
Gaucher ichthyosis restrictive dermopathy 0 trials
Ghose-Sachdev-Kumar syndrome 0 trials
Gilbert syndrome 0 trials
Gitelman syndrome 0 trials
Goldberg-Shprintzen syndrome 0 trials
Greig cephalopolysyndactyly syndrome 0 trials
1 sub-type
- Greig cephalopolysyndactyly-contiguous gene syndrome 0 trials
Grisel syndrome 0 trials
Grubben-de Cock-Borghgraef syndrome 0 trials
Guillouet-Gordon syndrome 0 trials
Guttmacher syndrome 0 trials
HEC syndrome 0 trials
Harel-Tora neurodevelopmental syndrome 0 trials
Hartsfield-Bixler-Demyer syndrome 0 trials
Hennekam syndrome 0 trials
3 sub-types
- Hennekam lymphangiectasia-lymphedema syndrome 1 0 trials
- Hennekam lymphangiectasia-lymphedema syndrome 2 0 trials
- Hennekam lymphangiectasia-lymphedema syndrome 3 0 trials
Hernández-Aguirre Negrete syndrome 0 trials
Hirschsprung disease-ganglioneuroblastoma syndrome 0 trials
Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 0 trials
Hirschsprung disease-type D brachydactyly syndrome 0 trials
Ho-Kaufman-McAlister syndrome 0 trials
Holzgreve-Wagner-Rehder syndrome 0 trials
Houge-Janssens syndrome 0 trials
4 sub-types
- Houge-Janssens syndrome 1 0 trials
- Houge-Janssens syndrome 2 0 trials
- Houge-Janssens syndrome 3 0 trials
- Houge-Janssens syndrome 4 0 trials
Hoxha-Aliu syndrome 0 trials
Hughes-Stovin syndrome 0 trials
ICHAD syndrome 0 trials
IFAP syndrome 0 trials
2 sub-types
- IFAP syndrome 1, with or without BRESHECK syndrome 0 trials
- IFAP syndrome 2 0 trials
Imerslund-Grasbeck syndrome 0 trials
2 sub-types
- Imerslund-Grasbeck syndrome type 1 0 trials
- Imerslund-Grasbeck syndrome type 2 0 trials
Jaberi-Elahi syndrome 0 trials
Jacobsen syndrome 0 trials
Jaffer-Beighton syndrome 0 trials
Joubert syndrome with ocular defect 0 trials
5 sub-types
- Joubert syndrome 14 0 trials
- Joubert syndrome 15 0 trials
- Joubert syndrome 20 0 trials
- Joubert syndrome 28 0 trials
- Joubert syndrome 3 0 trials
Judge Misch wright syndrome 0 trials
KAT6B-related multiple congenital anomalies syndrome 0 trials
KINSSHIP syndrome 0 trials
KLHL7-related Bohring-Opitz-like syndrome 0 trials
KLHL7-related cold-induced sweating-like syndrome 0 trials
Karayol-Borroto-Haghshenas neurodevelopmental syndrome 0 trials
Kariminejad neurodevelopmental syndrome 0 trials
Kashani-Strom-Utley syndrome 0 trials
Kasznica-Carlson-Coppedge syndrome 0 trials
Katsantoni-Papadakou-Lagoyanni syndrome 0 trials
Kleine-Levin syndrome 0 trials
Kluver-Bucy syndrome 0 trials
Kocher-debre-Semelaigne syndrome 0 trials
Koone-Rizzo-Elias syndrome 0 trials
Kousseff syndrome 0 trials
Kozlowski Brown Hardwick syndrome 0 trials
Kozlowski Ouvrier syndrome 0 trials
Kozlowski Rafinski Klicharska syndrome 0 trials
Kozlowski Warren Fisher syndrome 0 trials
Krauss Herman Holmes syndrome 0 trials
Krieble Bixler syndrome 0 trials
Kuster Majewski Hammerstein syndrome 0 trials
Kuster syndrome 0 trials
Landau-Kleffner syndrome 0 trials
Landy-Donnai syndrome 0 trials
Laugier-Hunziker syndrome 0 trials
Laurence-Moon syndrome 0 trials
Laurence-Prosser-Rocker syndrome 0 trials
Leigh syndrome, mitochondrial 0 trials
Lenz-Majewski hyperostotic dwarfism 0 trials
Li-Takada-Miyake syndrome 0 trials
Liberfarb syndrome 0 trials
Long-Olsen-Distelmaier syndrome 0 trials
Lopes-Maciel-Rodan syndrome 0 trials
Lowe-Kohn-Cohen syndrome 0 trials
Lown-Ganong-Levine syndrome 0 trials
Lui-Jee-Baron syndrome 0 trials
Luscan-Lumish syndrome 0 trials
MEDNIK syndrome 0 trials
MIRAGE syndrome 0 trials
MYT1L-related developmental delay-intellectual disability-obesity syndrome 0 trials
Mallory-Weiss syndrome 0 trials
Marinesco-Sjogren-like syndrome 0 trials
Marshall-Smith syndrome 0 trials
Mauriac syndrome 0 trials
Meacham syndrome 0 trials
Meester-Loeys syndrome 0 trials
Melhem-Fahl syndrome 0 trials
Melkersson-Rosenthal syndrome 0 trials
Mietens syndrome 0 trials
Mikati-Najjar-Sahli syndrome 0 trials
Miller Fisher syndrome 0 trials
Miller-Dieker lissencephaly syndrome 0 trials
Milner-Khallouf-Gibson syndrome 0 trials
Morimoto-Ryu-Malicdan neuromuscular syndrome 0 trials
Muggenthaler-Chowdhury-Chioza syndrome 0 trials
NDUFB11-related disorders 0 trials
2 sub-types
- Linear skin defects with multiple congenital anomalies 3 0 trials
- Mitochondrial complex I deficiency, nuclear type 30 0 trials
Nager acrofacial dysostosis 0 trials
Nathalie syndrome 0 trials
Neu-Laxova syndrome 0 trials
3 sub-types
- Neu-Laxova syndrome 1 0 trials
- Neu-Laxova syndrome 2 0 trials
- Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency 0 trials
Norman-Roberts syndrome 0 trials
Opitz G/BBB syndrome 0 trials
1 sub-type
- X-linked Opitz G/BBB syndrome 0 trials
PAGOD syndrome 0 trials
PCWH syndrome 0 trials
PEHO syndrome 0 trials
PMP22-RAI1 contiguous gene duplication syndrome 0 trials
Pallister-W syndrome 0 trials
Pan-Chung-Bellen syndrome 0 trials
Parana hard-skin syndrome 0 trials
Parinaud syndrome 0 trials
Pavone Fiumara Rizzo syndrome 0 trials
Pendred syndrome 0 trials
Perlman syndrome 0 trials
Perry syndrome 0 trials
Peters plus syndrome 0 trials
Pfeiffer Tietze Welte syndrome 0 trials
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies 0 trials
Plummer-Vinson syndrome 0 trials
Potocki-Shaffer syndrome 0 trials
Primrose syndrome 0 trials
Qazi Markouizos syndrome 0 trials
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 0 trials
2 sub-types
- Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 0 trials
- Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 0 trials
Rabson-Mendenhall syndrome 0 trials
Rahman syndrome 0 trials
Ramond-Elliott neurodevelopmental syndrome 0 trials
Reye syndrome 0 trials
Roberts-SC phocomelia syndrome 0 trials
Robinow syndrome 0 trials
3 sub-types
- Autosomal dominant Robinow syndrome 0 trials Sub-types →
- Autosomal recessive Robinow syndrome 0 trials
- Robinow syndrome, autosomal recessive 2 0 trials
Roussy-Levy syndrome 0 trials
Rubinstein Taybi like syndrome 0 trials
Ruvalcaba syndrome 0 trials
Ruzicka-Goerz-Anton syndrome 0 trials
SCARF syndrome 0 trials
SHORT syndrome 0 trials
STAD syndrome 0 trials
Saal-Bulas syndrome 0 trials
Sackey-Sakati-Aur syndrome 0 trials
Sammartino-Decreccio syndrome 0 trials
Samson-Gardner syndrome 0 trials
Samson-Viljoen syndrome 0 trials
Sanderson-Fraser syndrome 0 trials
Sandhaus-Ben-Ami syndrome 0 trials
Sandifer syndrome 0 trials
Saul-Wilkes-Stevenson syndrome 0 trials
Say-Barber-Miller syndrome 0 trials
Schilbach-Rott syndrome 0 trials
Schlegelberger-Grote syndrome 0 trials
Schmid metaphyseal chondrodysplasia 0 trials
Schrander-stumpel-Theunissen-Hulsmans syndrome 0 trials
Schwartz-Cohen-addad-Lambert syndrome 0 trials
Schwartz-Jampel syndrome 0 trials
2 sub-types
- Schwartz-Jampel syndrome type 1 0 trials
- Stüve-Wiedemann syndrome 1 0 trials
Seckel like syndrome majoor-krakauer type 0 trials
Sheehan syndrome 0 trials
Sillence syndrome 0 trials
Skraban-Deardorff syndrome 0 trials
Slti-Salem syndrome 0 trials
Spigelian hernia-cryptorchidism syndrome 0 trials
Stankiewicz-Isidor syndrome 0 trials
Sweeney-Cox syndrome 0 trials
Tan-Almurshedi syndrome 0 trials
Tayoun-Maawali syndrome 0 trials
Tietze syndrome 0 trials
Townes-Brocks syndrome 0 trials
2 sub-types
- Townes-Brocks syndrome 1 0 trials
- Townes-Brocks syndrome 2 0 trials
Treacher-Collins syndrome 0 trials
4 sub-types
- Treacher Collins syndrome 1 0 trials
- Treacher Collins syndrome 2 0 trials
- Treacher Collins syndrome 3 0 trials
- Treacher Collins syndrome 4 0 trials
VACTERL with hydrocephalus 0 trials
1 sub-type
- VACTERL association, X-linked, with or without hydrocephalus 0 trials
VACTERL/vater association 0 trials
1 sub-type
- VACTERL association, X-linked, with or without hydrocephalus 0 trials
Valence-Farazi cerebellar ataxia syndrome 0 trials
Ververi-Brady syndrome 0 trials
2 sub-types
- Ververi-Brady syndrome 1 0 trials
- Ververi-Brady syndrome 2 0 trials
Vici syndrome 0 trials
Waterhouse-Friderichsen syndrome 0 trials
Weaver syndrome 0 trials
Weill-Marchesani syndrome 0 trials
4 sub-types
- Weill-Marchesani 4 syndrome, recessive 0 trials
- Weill-Marchesani syndrome 1 0 trials
- Weill-Marchesani syndrome 2, dominant 0 trials
- Weill-Marchesani syndrome 3 0 trials
Wiedemann-Rautenstrauch syndrome 0 trials
Wildervanck syndrome 0 trials
Wissler syndrome 0 trials
Wolcott-Rallison syndrome 0 trials
Wolf-Hirschhorn syndrome 0 trials
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 trials
X-linked corneal dermoid 0 trials
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 0 trials
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 0 trials
X-linked lissencephaly with abnormal genitalia 0 trials
X-linked mandibulofacial dysostosis 0 trials
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 0 trials
X-linked myotubular myopathy-abnormal genitalia syndrome 0 trials
X-linked spasticity-intellectual disability-epilepsy syndrome 0 trials
XFE progeroid syndrome 0 trials
Yuksel-Vogel-Bauer syndrome 0 trials
Yunis-Varon syndrome 0 trials
Zadik-Barak-Levin syndrome 0 trials
Zazam Sheriff Phillips syndrome 0 trials
Zerres Rietschel Majewski syndrome 0 trials
Zinner syndrome 0 trials
Ablepharon macrostomia syndrome 0 trials
Achalasia-alacrima syndrome 0 trials
Acral dysostosis dyserythropoiesis syndrome 0 trials
Acrofrontofacionasal dysostosis 2 0 trials
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 trials
Acute lymphoblastic leukemia congenital sporadic aniridia 0 trials
Aglossia and situs inversus 0 trials
Agnathia-microstomia-synotia 0 trials
Agyria pachygyria polymicrogyria 0 trials
Agyria-pachygyria type 1 0 trials
Alacrima, achalasia, and intellectual disability syndrome 0 trials
Alopecia - intellectual disability syndrome 0 trials
4 sub-types
- Alopecia-intellectual disability syndrome 1 0 trials
- Alopecia-intellectual disability syndrome 2 0 trials
- Alopecia-intellectual disability syndrome 3 0 trials
- Alopecia-intellectual disability syndrome 4 0 trials
Alopecia congenita keratosis palmoplantaris 0 trials
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
Alpha thalassemia-intellectual disability syndrome type 1 0 trials
Alpha-mannosidosis type 1 0 trials
Alpha-thalassemia-myelodysplastic syndrome 0 trials
Aluminosis 0 trials
Amelia cleft lip palate hydrocephalus iris coloboma 0 trials
Angioosteohypotrophic syndrome 0 trials
Aniridia - intellectual disability syndrome 0 trials
Aniridia-absent patella syndrome 0 trials
Aniridia-cerebellar ataxia-intellectual disability syndrome 0 trials
Aniridia-ptosis-intellectual disability-familial obesity syndrome 0 trials
Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
Ankle defects short stature 0 trials
Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 trials
Ankyloblepharon filiforme imperforate anus 0 trials
Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
Annular constricting bands 0 trials
Anophthalmia cleft palate micrognathia 0 trials
Anophthalmia esophageal atresia cryptorchidism 0 trials
Anophthalmia plus syndrome 0 trials
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
Anotia facial palsy cardiac defect 0 trials
Anterior spinal artery syndrome 0 trials
Aortic dissection lentiginosis 0 trials
Aplasia cutis congenita-intestinal lymphangiectasia syndrome 0 trials
Aplasia of lacrimal and salivary glands 0 trials
Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
Arakawa syndrome 2 0 trials
Arena syndrome 0 trials
Arterial tortuosity-bone fragility syndrome 0 trials
Arthrogryposis IUGR thoracic dystrophy 0 trials
Arthrogryposis multiplex congenita CNS calcification 0 trials
Arthrogryposis spinal muscular atrophy 0 trials
Asternia 0 trials
Ataxia - telangiectasia variant 0 trials
Ataxia-photosensitivity-short stature syndrome 0 trials
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
Atrophoderma of Pierini and Pasini 0 trials
Auroneurodental syndrome 0 trials
Autism-facial port-wine stain syndrome 0 trials
Autosomal dominant cataract 0 trials
1 sub-type
- Autosomal dominant non-nuclear cataract 0 trials
Autosomal dominant chondrodysplasia punctata 0 trials
2 sub-types
- Chondrodysplasia punctata, brachytelephalangic, autosomal 0 trials
- Chondrodysplasia punctata, tibial-metacarpal type 0 trials
Autosomal dominant deafness - onychodystrophy syndrome 0 trials
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 trials
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0 trials
Autosomal recessive multiple pterygium syndrome 0 trials
1 sub-type
- Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 trials
Axial mesodermal dysplasia spectrum 0 trials
Baetz-greenwalt syndrome 0 trials
Bagatelle Cassidy syndrome 0 trials
Baker Vinters syndrome 0 trials
Basilar artery insufficiency 0 trials
Benign exophthalmos syndrome 0 trials
Bhaskar jagannathan syndrome 0 trials
Bilirubin induced brain injury in the newborn 0 trials
Black locks with albinism and deafness syndrome 0 trials
Blepharo naso facial syndrome van Maldergem type 0 trials
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome 0 trials
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
Bobble-head doll syndrome 0 trials
Bone dysplasia corpus callosum agenesis 0 trials
Brachydactyly absence of distal phalanges 0 trials
Brachydactyly anonychia 0 trials
Brachydactyly small stature face anomalies 0 trials
Brachydactyly tibial hypoplasia 0 trials
Brachydactyly type A2 0 trials
Brachydactyly-arterial hypertension syndrome 0 trials
Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation 0 trials
Brain malformation renal syndrome 0 trials
Branchio-oto-renal syndrome 0 trials
2 sub-types
- Branchiootorenal syndrome 1 0 trials
- Branchiootorenal syndrome 2 0 trials
Branchiootic syndrome 0 trials
3 sub-types
- Branchiootic syndrome 1 0 trials
- Branchiootic syndrome 2 0 trials
- Branchiootic syndrome 3 0 trials
Brittle bone syndrome lethal type 0 trials
Bronchiectasis oligospermia 0 trials
Bruyn scheltens syndrome 0 trials
Burn goodship syndrome 0 trials
Campomelia, Cumming type 0 trials
Camptodactyly joint contractures and facial skeletal dysplasia 0 trials
Camptodactyly vertebral fusion 0 trials
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
Camptomelic syndrome, long-limb type 0 trials
Carbon baby syndrome 0 trials
Cardiac hydatid cysts with intracavitary expansion 0 trials
Cardiac, facial, and digital anomalies with developmental delay 0 trials
Cardiocutaneous syndrome 0 trials
Cardioectodermal syndrome 0 trials
2 sub-types
- Naxos disease 0 trials
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 trials
Cardioencephalomyopathy 0 trials
Cardiofacial syndrome short limbs 0 trials
Cardiomelic syndrome stratton Koehler type 0 trials
Cardiomyopathy and deafness due to tRNA lysine gene mutation 0 trials
Cardiomyopathy diabetes deafness 0 trials
Cardiomyopathy hypogonadism collagenoma syndrome 0 trials
Cardiomyopathy hypogonadism metabolic anomalies 0 trials
Cardiomyopathy spherocytosis 0 trials
Cardiomyopathy-cataract-hip spine disease syndrome 0 trials
Carpo tarsal osteolysis recessive 0 trials
Cat-eye syndrome 0 trials
Cataract - microcornea syndrome 0 trials
Cataract skeletal anomalies 0 trials
Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 0 trials
Cataract-deafness-hypogonadism syndrome 0 trials
Cataract-glaucoma syndrome 0 trials
Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
Cataract-nephropathy-encephalopathy syndrome 0 trials
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 0 trials
2 sub-types
- Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 0 trials
- Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 0 trials
Caudal duplication 0 trials
Caudal regression-sirenomelia spectrum 0 trials
1 sub-type
- Familial caudal dysgenesis 0 trials Sub-types →
Cennamo gangemi syndrome 0 trials
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome 0 trials
Cerebellar agenesis 0 trials
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 trials
Cerebello-olivary atrophy 0 trials
Cerebral calcification cerebellar hypoplasia 0 trials
Cerebral calcifications opalescent teeth phosphaturia 0 trials
Cerebrocostomandibular syndrome 0 trials
Childhood aortic valve stenosis 0 trials
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 trials
Chondrodysplasia 0 trials
3 sub-types
- Chondrodysplasia punctata with steroid sulfatase deficiency 0 trials
- Chondrodysplasia situs inversus imperforate anus polydactyly 0 trials
- Lethal recessive chondrodysplasia 0 trials
Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
Choreoacanthocytosis amyotrophic 0 trials
Chorioretinopathy dominant form microcephaly 0 trials
Chromosome 13q14 deletion syndrome 0 trials
Chromosome 16p12.1 deletion syndrome, 520kb 0 trials
Chromosome 18p deletion syndrome 0 trials
Chromosome 18q deletion syndrome 0 trials
2 sub-types
- Distal chromosome 18q deletion syndrome 0 trials
- Proximal chromosome 18q deletion syndrome 0 trials
Chromosome 3 duplication syndrome 0 trials
Chronic atrial and intestinal dysrhythmia 0 trials
Chronic demyelinizing neuropathy with IgM monoclonal 0 trials
Ciliary dyskinesia-bronchiectasis 0 trials
Circumscribed cutaneous aplasia of the vertex 0 trials
Circumscribed disseminated keratosis Jadassohn lew type 0 trials
Cleft lip and palate malrotation cardiopathy 0 trials
Cleft lip and/or palate with mucous cysts of lower 0 trials
Cleft lip palate dysmorphism kumar type 0 trials
Cleft lip palate intellectual disability corneal opacity 0 trials
Cleft lip palate oligodontia syndactyly pili torti 0 trials
Cleft lip palate pituitary deficiency 0 trials
Cleft lip palate-tetraphocomelia 0 trials
Cleft lip-retinopathy syndrome 0 trials
Cleft lip/palate-deafness-sacral lipoma syndrome 0 trials
Cleft lower lip cleft lateral canthi chorioretinal 0 trials
Cleft palate cardiac defect ectrodactyly 0 trials
Cleft palate colobomata radial synostosis deafness 0 trials
Cleft palate heart disease polydactyly absent tibia 0 trials
Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials
1 sub-type
- Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation 0 trials
Cleft tongue 0 trials
Cleidorhizomelic syndrome 0 trials
Cloacal exstrophy 0 trials
Coarse face hypotonia constipation 0 trials
Cochleosaccular degeneration-cataract syndrome 0 trials
Coloboma porencephaly hydronephrosis 0 trials
Colobomata unilobar lung heart defect 0 trials
Colobomatous macrophthalmia-microcornea syndrome 0 trials
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
Colonic malakoplakia 0 trials
Complement receptor deficiency 0 trials
Congenital absence of the sternocleidomastoid muscle 0 trials
Congenital acardia 0 trials
1 sub-type
- Holoacardius amorphus 0 trials
Congenital aneurysms of the great vessels 0 trials
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome 0 trials
Congenital articular rigidity 0 trials
Congenital benign spinal muscular atrophy dominant 0 trials
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 0 trials
Congenital cataract-ichthyosis syndrome 0 trials
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 0 trials
Congenital contractures 0 trials
Congenital craniosynostosis maternal hyperthyroiditis 0 trials
Congenital cystic eye 0 trials
1 sub-type
- Congenital cystic eye multiple ocular and intracranial anomalies 0 trials
Congenital generalized hypercontractile muscle stiffness syndrome 0 trials
Congenital heart disease ptosis hypodontia craniostosis 0 trials
Congenital heart disease radio ulnar synostosis intellectual disability 0 trials
Congenital hereditary facial paralysis-variable hearing loss syndrome 0 trials
2 sub-types
- Facial paresis, hereditary congenital, 2 0 trials
- Facial paresis, hereditary congenital, 3 0 trials
Congenital ichthyosis-microcephalus-tetraplegia syndrome 0 trials
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
Congenital laryngeal web 0 trials
Congenital mumps 0 trials
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0 trials
Congenital stenosis of cervical medullary canal 0 trials
Congenital unilateral pulmonary hypoplasia 0 trials
Congenital vagal hyperreflexivity 0 trials
Congenital varicella syndrome 0 trials
Corneal crystals myopathy neuropathy 0 trials
Corneal dystrophy ichthyosis microcephaly intellectual disability 0 trials
Corneal dystrophy pigmentary anomaly malabsorption 0 trials
Corneal dystrophy-perceptive deafness syndrome 0 trials
Corneal-cerebellar syndrome 0 trials
Corpus callosum agenesis of blepharophimosis robin type 0 trials
Corpus callosum agenesis-abnormal genitalia syndrome 0 trials
Corpus callosum agenesis-double urinary collecting system syndrome 0 trials
Corpus callosum dysgenesis X-linked recessive 0 trials
Corpus callosum dysgenesis cleft spasm 0 trials
Corpus callosum dysgenesis hypopituitarism 0 trials
Cortada Koussef Matsumoto syndrome 0 trials
Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
Cortical dysplasia-focal epilepsy syndrome 0 trials
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0 trials
2 sub-types
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0 trials
- Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 0 trials
Craniofacial dysostosis arthrogryposis progeroid appearance 0 trials
Craniofaciocardiohepatic syndrome 0 trials
Craniofrontonasal syndrome Teebi type 0 trials
Craniostenosis with congenital heart disease intellectual disability 0 trials
Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome 0 trials
Craniosynostosis-scoliosis syndrome 0 trials
Crawfurd syndrome 0 trials
Cutis gyratum acanthosis nigricans craniosynostosis 0 trials
Cutis laxa osteoporosis 0 trials
Cystic fibrosis-gastritis-megaloblastic anemia syndrome 0 trials
De Hauwere Leroy adriaenssens syndrome 0 trials
De Sanctis-Cacchione syndrome 0 trials
Deafness conductive stapedial ear malformation facial palsy 0 trials
Deafness goiter stippled epiphyses 0 trials
Deafness hypospadias metacarpal and metatarsal syndrome 0 trials
Deafness mesenteric diverticula of small bowel neuropathy 0 trials
Deafness peripheral neuropathy arterial disease 0 trials
Deafness progressive cataract autosomal dominant 0 trials
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
Deafness-hypogonadism syndrome 0 trials
Deafness-intellectual disability, Martin-Probst type syndrome 0 trials
Dermatocardioskeletal syndrome boronne type 0 trials
Dermochondrocorneal dystrophy 0 trials
Developmental and speech delay due to SOX5 deficiency 0 trials
Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome 0 trials
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome 0 trials
Dextrocardia with situs inversus 0 trials
Diabetes persistent mullerian ducts 0 trials
Diabetes, deafness, developmental delay, and short stature syndrome 0 trials
Diaphragmatic agenesis radial aplasia omphalocele 0 trials
Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
Diaphragmatic hernia exomphalos corpus callosum agenesis 0 trials
Diaphragmatic hernia upper limb defects 0 trials
Diaphragmatic hernia-short bowel-asplenia syndrome 0 trials
Die Smulders droog van dijk syndrome 0 trials
Diencephalic syndrome 0 trials
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 trials
Diffuse infiltrative lymphocytosis syndrome 0 trials
Digital anomalies-intellectual disability-short stature syndrome 0 trials
Dilated cardiomyopathy 1E 0 trials
Diomedi bernardi placidi syndrome 0 trials
Diphallus rachischisis imperforate anus 0 trials
Distal monosomy 13q 0 trials
Distal trisomy 14q 0 trials
Distichiasis heart congenital anomalies 0 trials
Diverticulosis of bowel, hernia, and retinal detachment 0 trials
Double discordia 0 trials
Double uterus-hemivagina-renal agenesis 0 trials
Double uterus-hemivagina-renal agenesis syndrome 0 trials
Duodenal atresia tetralogy of fallot 0 trials
Duplication of leg mirror foot 0 trials
Duplication of the thumb unilateral biphalangeal 0 trials
Dupont sellier chochillon syndrome 0 trials
Dwarfism bluish sclerae 0 trials
Dwarfism deafness retinitis pigmentosa 0 trials
Dwarfism lethal type advanced bone age 0 trials
Dwarfism thin bones multiple fractures 0 trials
Dyschondrosteosis-nephritis syndrome 0 trials
Dyschromatosis, ichthyosis, deafness, and atopic disease 0 trials
Dysmorphism cleft palate loose skin 0 trials
Dyssegmental dysplasia-glaucoma syndrome 0 trials
Dystonia-aphonia syndrome 0 trials
Early-onset obesity-hyperphagia-severe developmental delay syndrome 0 trials
Ectrodactyly cardiopathy dysmorphism 0 trials
Ectrodactyly-polydactyly syndrome 0 trials
Empty sella syndrome 0 trials
Enamel hypoplasia cataract hydrocephaly 0 trials
Encephalocele anencephaly 0 trials
Encephalopathy, recurrent, of childhood 0 trials
Enchondromatosis dwarfism deafness 0 trials
Epidermal nevus vitamin D resistant rickets 0 trials
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
Epimetaphyseal dysplasia cataract 0 trials
Epiphyseal dysplasia dysmorphism camptodactyly 0 trials
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
Ermine phenotype 0 trials
Esophageal atresia coloboma talipes 0 trials
Estrogen resistance syndrome 0 trials
Euthyroid sick syndrome 0 trials
Even-plus syndrome 0 trials
Extrasystoles short stature hyperpigmentation microcephaly 0 trials
Eyebrow duplication-syndactyly syndrome 0 trials
Facial clefting corpus callosum agenesis 0 trials
Facio digito genital syndrome recessive form 0 trials
Facio skeletal genital syndrome rippberger type 0 trials
Faciodigitogenital syndrome 0 trials
3 sub-types
- Aarskog-Scott syndrome, X-linked 0 trials
- Autosomal dominant Aarskog syndrome 0 trials
- Autosomal recessive faciodigitogenital syndrome 0 trials
Familial capillaro-venous leptomeningeal angiomatosis 0 trials
Familial episodic pain syndrome with predominantly lower limb involvement 0 trials
Familial infantile bilateral striatal necrosis 0 trials
1 sub-type
- Striatonigral degeneration, infantile, mitochondrial 0 trials
Familial intestinal malrotation-facial anomalies syndrome 0 trials
Familial osteodysplasia, Anderson type 0 trials
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
Feigenbaum Bergeron syndrome 0 trials
Ferro-cerebro-cutaneous syndrome 0 trials
Fetal akinesia deformation sequence 0 trials
5 sub-types
- Fetal akinesia deformation sequence 1 0 trials
- Fetal akinesia deformation sequence 2 0 trials
- Fetal akinesia deformation sequence 3 0 trials
- Fetal akinesia deformation sequence 4 0 trials
- Fetal akinesia syndrome, X-linked 0 trials
Fetal brain disruption sequence 0 trials
Fetal enterovirus syndrome 0 trials
Fetal hydantoin syndrome 0 trials
Fetal parainfluenza virus type 3 syndrome 0 trials
Fetal phenothiazine syndrome 0 trials
Fetal valproate syndrome 0 trials
Fibrogenesis imperfecta ossium 0 trials
Fibromatosis multiple non ossifying 0 trials
Fibrosis, neurodegeneration, and cerebral angiomatosis 0 trials
Fibula aplasia complex brachydactyly 0 trials
Fibular aplasia-ectrodactyly syndrome 0 trials
Fibular hypoplasia scapulo pelvic dysplasia absent 0 trials
Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 0 trials
Focal alopecia congenital megalencephaly 0 trials
Focal or multifocal malformations in neuronal migration 0 trials
Foix chavany Marie syndrome 0 trials
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
Fragile X-associated tremor/ataxia syndrome 0 trials
Frontofacionasal dysplasia 0 trials
Frontonasal dysplasia Klippel feil syndrome 0 trials
Frontonasal dysplasia phocomelic upper limbs 0 trials
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 0 trials
Frontonasal malformation cloacal exstrophy 0 trials
Genitopatellar syndrome 0 trials
Gershinibaruch Leibo syndrome 0 trials
Gigantism advanced bone age hoarse cry 0 trials
Gingival fibromatosis-facial dysmorphism syndrome 0 trials
Glaucoma-sleep apnea syndrome 0 trials
Global developmental delay-osteopenia-ectodermal defect syndrome 0 trials
Glossopalatine ankylosis micrognathia ear anomalies 0 trials
Goldstein hutt syndrome 0 trials
Goniodysgenesis intellectual disability short stature 0 trials
Gray platelet syndrome 0 trials
Green sandford davison syndrome 0 trials
Grix Blankenship Peterson syndrome 0 trials
Growth delay-hydrocephaly-lung hypoplasia syndrome 0 trials
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 trials
Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
Hair defect with photosensitivity and intellectual disability syndrome 0 trials
Hand-foot-genital syndrome 0 trials
Hearing impairment and infertile male syndrome 0 trials
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome 0 trials
Heart-hand syndrome 0 trials
6 sub-types
- Carney complex - trismus - pseudocamptodactyly syndrome 0 trials
- Holt-Oram syndrome 0 trials Sub-types →
- Brachydactyly-long thumb syndrome 0 trials
- Heart-hand syndrome type 2 0 trials
- Heart-hand syndrome, Slovenian type 0 trials
- Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 0 trials
Hepatic fibrosis-renal cysts-intellectual disability syndrome 0 trials
Hereditary benign intraepithelial dyskeratosis 0 trials
Hereditary continuous muscle fiber activity 0 trials
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome 0 trials
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0 trials
Hereditary sensory and autonomic neuropathy with deafness and global delay 0 trials
High myopia-sensorineural deafness syndrome 0 trials
Holoprosencephaly 0 trials
17 sub-types
- Alobar holoprosencephaly 0 trials Sub-types →
- Chromosome 1q41-q42 deletion syndrome 0 trials
- Holoprosencephaly 1 0 trials
- Holoprosencephaly 10 0 trials
- Holoprosencephaly 11 0 trials
- Holoprosencephaly 12 with or without pancreatic agenesis 0 trials
- Holoprosencephaly 13, X-linked 0 trials
- Holoprosencephaly 14 0 trials
- Holoprosencephaly 2 0 trials
- Holoprosencephaly 3 0 trials Sub-types →
- Holoprosencephaly 4 0 trials
- Holoprosencephaly 6 0 trials
- Holoprosencephaly 7 0 trials
- Holoprosencephaly 8 0 trials
- Lobar holoprosencephaly 0 trials Sub-types →
- Microform holoprosencephaly 0 trials Sub-types →
- Semilobar holoprosencephaly 0 trials
Holoprosencephaly-postaxial polydactyly syndrome 0 trials
Hydrocephalus-blue sclerae-nephropathy syndrome 0 trials
Hydrocephalus-obesity-hypogonadism syndrome 0 trials
Hydrocephaly-cerebellar agenesis syndrome 0 trials
Hypergonadotropic hypogonadism-cataract syndrome 0 trials
Hypertrichotic osteochondrodysplasia Cantu type 0 trials
Hypogonadism-mitral valve prolapse-intellectual disability syndrome 0 trials
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 0 trials
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 trials
Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
Hypotonia-cystinuria syndrome 0 trials
1 sub-type
- Atypical hypotonia-cystinuria syndrome 0 trials
Hypotrichosis-deafness syndrome 0 trials
Hypotrichosis-intellectual disability, Lopes type 0 trials
Hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 0 trials
2 sub-types
- Hypotrichosis-lymphedema-telangiectasia syndrome 0 trials
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 trials
Ichthyosis linearis circumflexa 0 trials
Ichthyosis-cheek-eyebrow syndrome 0 trials
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0 trials
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0 trials
Ichthyosis-oral and digital anomalies syndrome 0 trials
Immune dysregulation, neurodevelopmental defects, and colitis 0 trials
Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
Infantile choroidocerebral calcification syndrome 0 trials
Infantile convulsions and choreoathetosis 0 trials
Infantile striato thalamic degeneration 0 trials
Infundibulopelvic stenosis-multicystic kidney syndrome 0 trials
Intellectual disability, autosomal dominant 29 0 trials
Intellectual disability, autosomal dominant 30 0 trials
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 0 trials
Intellectual disability-cataracts-kyphosis syndrome 0 trials
Intellectual disability-epilepsy-extrapyramidal syndrome 0 trials
Intellectual disability-hypotonia-skin hyperpigmentation syndrome 0 trials
Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 0 trials
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 0 trials
Intellectual disability-strabismus syndrome 0 trials
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 0 trials
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 0 trials
Ischio-vertebral syndrome 0 trials
Isotretinoin syndrome 0 trials
Joint laxity, short stature, and myopia 0 trials
Keratosis follicularis-dwarfism-cerebral atrophy syndrome 0 trials
Laryngeal abductor paralysis-intellectual disability syndrome 0 trials
Laryngo-onycho-cutaneous syndrome 0 trials
Lateral medullary syndrome 0 trials
Le Marec-Bracq-Picaud syndrome 0 trials
Lethal congenital contracture syndrome 1 0 trials
Lethal hemolytic anemia-genital anomalies syndrome 0 trials
Lethal multiple pterygium syndrome 0 trials
1 sub-type
- X-linked lethal multiple pterygium syndrome 0 trials
Limb body wall complex 0 trials
Linkeropathy 0 trials
3 sub-types
- Desbuquois dysplasia 2 0 trials
- Spondylo-ocular syndrome 0 trials
- Spondylodysplastic Ehlers-Danlos syndrome 0 trials
Loin pain hematuria syndrome 0 trials
Lower limb deficiency-hypospadias syndrome 0 trials
Lung agenesis-heart defect-thumb anomalies syndrome 0 trials
Lymphedema-atrial septal defects-facial changes syndrome 0 trials
Lymphedema-cerebral arteriovenous anomaly syndrome 0 trials
Lymphedema-distichiasis syndrome 0 trials
Macrocephaly-short stature-paraplegia syndrome 0 trials
Macrogyria, pseudobulbar palsy and intellectual disability 0 trials
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
Mandibulofacial dysostosis with alopecia 0 trials
Megacystis-microcolon-intestinal hypoperistalsis syndrome 0 trials
5 sub-types
Megalencephaly-polydactyly syndrome 0 trials
Merlob grunebaum reisner syndrome 0 trials
Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0 trials
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0 trials
Methimazole embryofetopathy 0 trials
Microcephalic primordial dwarfism due to RTTN deficiency 0 trials
1 sub-type
- Bilateral generalized polymicrogyria 0 trials
Microcephalic primordial dwarfism, Alazami type 0 trials
Microcephalic primordial dwarfism, Toriello type 0 trials
Microcephaly and chorioretinopathy 1 0 trials
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 trials
Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
Microcephaly-brain defect-spasticity-hypernatremia syndrome 0 trials
Microcephaly-capillary malformation syndrome 0 trials
Microcephaly-complex motor and sensory axonal neuropathy syndrome 0 trials
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 0 trials
Microcephaly-microcornea syndrome, Seemanova type 0 trials
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 0 trials
Microgastria-limb reduction defect syndrome 0 trials
Microlissencephaly-micromelia syndrome 0 trials
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 0 trials
Mirror polydactyly-vertebral segmentation-limbs defects syndrome 0 trials
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 trials
Monosomy 13q34 0 trials
Motor developmental delay due to 14q32.2 paternally expressed gene defect 0 trials
3 sub-types
- Maternal uniparental disomy of chromosome 14 0 trials
- Paternal 14q32.2 hypomethylation syndrome 0 trials
- Paternal 14q32.2 microdeletion syndrome 0 trials
Mulibrey nanism 0 trials
Mullerian derivatives-lymphangiectasia-polydactyly syndrome 0 trials
Mullerian duct anomalies-limb anomalies syndrome 0 trials
Multicentric osteolysis, nodulosis, and arthropathy 0 trials
Multicentric reticulohistiocytosis 0 trials
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 trials
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 0 trials
Multiple synostoses syndrome 0 trials
4 sub-types
- Multiple synostoses syndrome 1 0 trials
- Multiple synostoses syndrome 2 0 trials
- Multiple synostoses syndrome 3 0 trials
- Multiple synostoses syndrome 4 0 trials
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0 trials
Muscular fibrosis multifocal obstructed vessels 0 trials
Muscular pseudohypertrophy-hypothyroidism syndrome 0 trials
Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 0 trials
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 0 trials
Myopathy-growth delay-intellectual disability-hypospadias syndrome 0 trials
Nasopalpebral lipoma-coloboma syndrome 0 trials
Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts 0 trials
Neonatal ichthyosis-sclerosing cholangitis syndrome 0 trials
Nephrogenic diabetes insipidus-intracranial calcification syndrome 0 trials
Nephropathy - deafness - hyperparathyroidism syndrome 0 trials
Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 trials
Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 0 trials
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 trials
Neurodevelopmental disorder with variable familial hypercholanemia 0 trials
Nodular neuronal heterotopia 0 trials
3 sub-types
- Periventricular nodular heterotopia 0 trials Sub-types →
- Sub-cortical nodular heterotopia 0 trials
- Subependymal nodular heterotopia 0 trials
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 0 trials
Oculo digital syndrome 0 trials
Oculo-skeletal-renal syndrome 0 trials
Oculocerebrodental syndrome 0 trials
Oculocerebrofacial syndrome, Kaufman type 0 trials
Oculodental syndrome, Rutherfurd type 0 trials
Oculogastrointestinal-neurodevelopmental syndrome 0 trials
Oculomaxillofacial dysostosis 0 trials
1 sub-type
- Tessier number 4 facial cleft 0 trials
Oculovertebral syndrome 0 trials
Olivopontocerebellar atrophy-deafness syndrome 0 trials
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
Oromandibular-limb anomalies syndrome 0 trials
2 sub-types
- Orofaciodigital syndrome 0 trials Sub-types →
- Oromandibular-limb hypogenesis syndrome 0 trials Sub-types →
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
Osteopenia-intellectual disability-sparse hair syndrome 0 trials
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 0 trials
Osteoporosis-pseudoglioma syndrome 0 trials
Osteosclerosis-ichthyosis-premature ovarian failure syndrome 0 trials
Otopalatodigital syndrome type 1 0 trials
Painful legs and moving toes syndrome 0 trials
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 trials
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 0 trials
1 sub-type
- Palmoplantar keratoderma-spastic paralysis syndrome 0 trials
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 trials
Paraplegia-intellectual disability-hyperkeratosis syndrome 0 trials
Parkinsonism-dystonia, infantile 0 trials
3 sub-types
- Brain dopamine-serotonin vesicular transport disease 0 trials
- Classic dopamine transporter deficiency syndrome 0 trials
- Parkinsonism-dystonia 3, childhood-onset 0 trials
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
Pentasomy X 0 trials
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 trials
Pfeiffer rockelein syndrome 0 trials
Phosphoribosylpyrophosphate synthetase deficiency 0 trials
Piepkorn karp hickok syndrome 0 trials
Pili torti-developmental delay-neurological abnormalities syndrome 0 trials
Podder-tolmie syndrome 0 trials
Pointer syndrome 0 trials
Polydactyly-macrocephaly syndrome 0 trials
Polyendocrine-polyneuropathy syndrome 0 trials
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 0 trials
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
Primary hypergonadotropic hypogonadism-partial alopecia syndrome 0 trials
Primary hypertrophic osteoarthropathy 0 trials
4 sub-types
- Cranio-osteoarthropathy 0 trials
- Hypertrophic osteoarthropathy, primary, autosomal dominant 0 trials
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 trials
- Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 0 trials
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome 0 trials
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 0 trials
Progeria-short stature-pigmented nevi syndrome 0 trials
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
Prostatic malacoplakia associated with prostatic abscess 0 trials
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 0 trials
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 0 trials
Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome 0 trials
Ptosis-strabismus-ectopic pupils syndrome 0 trials
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 0 trials
Ptosis-vocal cord paralysis syndrome 0 trials
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome 0 trials
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
Radial ray hypoplasia-choanal atresia syndrome 0 trials
Radio-digito-facial dysplasia 0 trials
Radioulnar synostosis-microcephaly-scoliosis syndrome 0 trials
Ragopathy 0 trials
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 0 trials
Renal caliceal diverticuli-deafness syndrome 0 trials
Renal coloboma syndrome 0 trials
Renal cysts and diabetes syndrome 0 trials
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 0 trials
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 0 trials
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 0 trials
Richieri-costa guion-almeida cohen syndrome 0 trials
Ring chromosome 10 0 trials
Ring chromosome 13 0 trials
Ruvalcaba churesigaew myhre syndrome 0 trials
Scalp defects-postaxial polydactyly syndrome 0 trials
Schisis association 0 trials
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 trials
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0 trials
Shone complex 0 trials
Short fifth metacarpals-insulin resistance syndrome 0 trials
Short limb dwarf lethal colavita kozlowski type 0 trials
Short stature contractures hypotonia 0 trials
Short stature, microcephaly, and endocrine dysfunction 0 trials
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 0 trials
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0 trials
Shoulder and girdle defects-familial intellectual disability syndrome 0 trials
Sickle cell-hemoglobin E disease syndrome 0 trials
Sickle cell-hemoglobin d disease syndrome 0 trials
Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 trials
Spastic ataxia-corneal dystrophy syndrome 0 trials
Spastic paraparesis-cataracts-speech delay syndrome 0 trials
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0 trials
Spina bifida-hypospadias syndrome 0 trials
Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
Subaortic stenosis-short stature syndrome 0 trials
Subcortical band heterotopia 0 trials
2 sub-types
- Band heterotopia of brain 0 trials
- Lissencephaly type 1 due to doublecortin gene mutation 0 trials
Syndactyly-polydactyly-ear lobe syndrome 0 trials
Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
Syndromic congenital sodium diarrhea 0 trials
Syndromic microspherophakia 0 trials
Syndromic orbital border hypoplasia 0 trials
Syngnathia multiple anomalies 0 trials
Tall stature-scoliosis-macrodactyly of the great toes syndrome 0 trials
Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 0 trials
Tempi syndrome 0 trials
Temtamy preaxial brachydactyly syndrome 0 trials
Tetrasomy 12p 0 trials
Thickened earlobes with conductive deafness from incus-stapes abnormalities 0 trials
Thoraco-abdominal enteric duplication 0 trials
Thyrocerebrorenal syndrome 0 trials
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0 trials
Trigeminal trophic syndrome 0 trials
Trigonocephaly-short stature-developmental delay syndrome 0 trials
Tubular renal disease-cardiomyopathy syndrome 0 trials
Tubulointerstitial nephritis and uveitis syndrome 0 trials
Ulnar hypoplasia-split foot syndrome 0 trials
Ulnar-mammary syndrome 0 trials
Umbilical cord ulceration-intestinal atresia syndrome 0 trials
Van den Bosch syndrome 0 trials
Vitamin K-antagonist embryofetopathy 0 trials
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 0 trials
Weinstein kliman scully syndrome 0 trials
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 0 trials
Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 0 trials
Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 trials
Yellow nail syndrome 0 trials

Most studied deeper sub-types

Glioma susceptibility 1 (133) Lynch syndrome (81) Respiratory distress syndrome in premature infants (79) Neurofibromatosis type 1 (73) Myelodysplastic syndrome with excess blasts (71) Newborn respiratory distress syndrome (49) Myotonic dystrophy type 1 (45) Leukemia, acute lymphocytic, susceptibility to, 1 (41) Tuberous sclerosis (41) BRCA2-related cancer predisposition (36) Hereditary breast ovarian cancer syndrome (35) Avascular necrosis of femoral head, primary, 1 (34) Mismatch repair cancer syndrome 1 (34) Multiple endocrine neoplasia type 1 (34) Classic familial adenomatous polyposis (33) Tuberous sclerosis 1 (33) ACTH-dependent Cushing syndrome (23) BRCA1-related cancer predisposition (23) Cushing disease due to pituitary adenoma (23) Familial medullary thyroid carcinoma (23)

Including sub-types (7133) Tagged with Syndromic disease (25)

Trials to join now! 15 Not yet recruiting 4 Not yet finished but already full! 2 Completed 3 Terminated 1

Syndromic disease

Where it sits in the disease tree

Most studied deeper sub-types

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