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Hereditary disease

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.

193 trials tagged with this condition →

Hereditary neurological disease 6 trials · 5,772 incl. sub-types Sub-types →
Inborn errors of metabolism 48 trials · 2,228 incl. sub-types Sub-types →
Autosomal genetic disease 0 trials · 1,665 incl. sub-types Sub-types →
Hereditary disorder of connective tissue 0 trials · 1,311 incl. sub-types Sub-types →
Inflammatory bowel disease 429 trials · 1,079 incl. sub-types Sub-types →
Hereditary skin disorder 7 trials · 880 incl. sub-types Sub-types →
Immunodeficiency disease 55 trials · 776 incl. sub-types Sub-types →
Hereditary neoplastic syndrome 60 trials · 731 incl. sub-types Sub-types →
Skeletal dysplasia 1 trial · 660 incl. sub-types Sub-types →
Cardiogenetic disease 3 trials · 614 incl. sub-types Sub-types →
Inherited hemoglobinopathy 38 trials · 439 incl. sub-types Sub-types →
COPD, severe early onset 405 trials
Hereditary skeletal muscle disorder 1 trial · 404 incl. sub-types Sub-types →
X-linked disease 18 trials · 323 incl. sub-types Sub-types →
Hereditary dementia 2 trials · 322 incl. sub-types Sub-types →
Inherited blood coagulation disorder 8 trials · 321 incl. sub-types Sub-types →
Inherited kidney disorder 1 trial · 317 incl. sub-types Sub-types →
Cataract 294 trials · 305 incl. sub-types Sub-types →
Myopia 258 trials · 273 incl. sub-types Sub-types →
Preeclampsia 232 trials · 236 incl. sub-types Sub-types →
Burkitt lymphoma 220 trials Sub-types →
Gastroesophageal reflux disease 217 trials Sub-types →
Intervertebral disk degenerative disorder 122 trials · 216 incl. sub-types Sub-types →
Polycystic ovary syndrome 200 trials
Classic Hodgkin lymphoma 147 trials · 149 incl. sub-types Sub-types →
Ewing sarcoma 124 trials · 125 incl. sub-types Sub-types →
Inherited auditory system disease 0 trials · 120 incl. sub-types Sub-types →
Bronchiectasis 118 trials · 119 incl. sub-types Sub-types →
Hereditary otorhinolaryngologic disease 0 trials · 102 incl. sub-types Sub-types →
Osteonecrosis of genetic origin 0 trials · 102 incl. sub-types Sub-types →
RASopathy 9 trials · 100 incl. sub-types Sub-types →
Lymphoproliferative syndrome 69 trials · 99 incl. sub-types Sub-types →
Hypogonadotropic hypogonadism 19 trials · 99 incl. sub-types Sub-types →
Gastrointestinal stromal tumor 93 trials
Familial polycythemia 1 trial · 92 incl. sub-types Sub-types →
Familial colorectal cancer 3 trials · 91 incl. sub-types Sub-types →
Celiac disease 79 trials Sub-types →
Cirrhosis, familial 4 trials · 79 incl. sub-types Sub-types →
Spondylolisthesis 77 trials Sub-types →
Orofacial cleft 4 trials · 69 incl. sub-types Sub-types →
Developmental dysplasia of the hip 62 trials Sub-types →
Keratoconus 61 trials Sub-types →
Anodontia 59 trials Sub-types →
Enterocolitis 3 trials · 58 incl. sub-types Sub-types →
Lymphatic malformation 17 trials · 55 incl. sub-types Sub-types →
Synovial sarcoma 53 trials Sub-types →
Inherited aplastic anemia 2 trials · 53 incl. sub-types Sub-types →
Ciliopathy 2 trials · 49 incl. sub-types Sub-types →
Hereditary glaucoma 0 trials · 49 incl. sub-types Sub-types →
Bone marrow failure syndrome 48 trials Sub-types →
Inherited primary ovarian failure 2 trials · 47 incl. sub-types Sub-types →
Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types Sub-types →
Malocclusion due to protuberant upper front teeth 41 trials
Craniosynostosis 17 trials · 39 incl. sub-types Sub-types →
Chronic granulomatous disease 37 trials Sub-types →
Hypospadias 35 trials Sub-types →
Preterm premature rupture of the membranes 35 trials
Hereditary hyperparathyroidism 1 trial · 35 incl. sub-types Sub-types →
Fragile X syndrome 34 trials Sub-types →
Fuchs' endothelial dystrophy 33 trials Sub-types →
Spondylosis, cervical 33 trials
Arteriovenous malformations of the brain 32 trials
Pilonidal sinus 32 trials
MALT lymphoma 30 trials · 31 incl. sub-types Sub-types →
Hirschsprung disease 29 trials
Deafness, unilateral 29 trials
Inherited thrombocytopenia 2 trials · 29 incl. sub-types Sub-types →
Pathological gambling 28 trials
Familial hemolytic anemia 4 trials · 27 incl. sub-types Sub-types →
Oculocerebral hypopigmentation syndrome of Preus 26 trials
Syncope, familial vasovagal 26 trials
Inherited bleeding disorder, platelet-type 6 trials · 26 incl. sub-types Sub-types →
Hereditary hypoparathyroidism 0 trials · 26 incl. sub-types Sub-types →
Laminopathy 3 trials · 25 incl. sub-types Sub-types →
Hypogonadism, male 24 trials
Diastasis recti and weakness of the linea alba 23 trials
Trigger thumb 23 trials
Speech-sound disorder 22 trials
Tooth agenesis 22 trials Sub-types →
Anterior segment dysgenesis 2 trials · 21 incl. sub-types Sub-types →
Alveolar soft part sarcoma 20 trials Sub-types →
Pectus excavatum 20 trials
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 16 trials · 19 incl. sub-types Sub-types →
Hereditary hypophosphatemic rickets 1 trial · 18 incl. sub-types Sub-types →
Familial clubfoot with or without associated lower limb anomalies 0 trials · 18 incl. sub-types Sub-types →
Hereditary hemophagocytic lymphohistiocytosis 8 trials · 16 incl. sub-types Sub-types →
Familial osteosclerosis 0 trials · 16 incl. sub-types Sub-types →
Familial nonmedullary thyroid carcinoma 3 trials · 15 incl. sub-types Sub-types →
Arts syndrome 14 trials
Klippel-Feil syndrome 14 trials Sub-types →
Cryptorchidism 14 trials Sub-types →
Essential hypertension, genetic 14 trials
Periodontitis, chronic, adult 14 trials
Pregnancy loss, recurrent, 4 14 trials
Visceral leishmaniasis 14 trials
Chiari malformation 13 trials · 14 incl. sub-types Sub-types →
Aorta coarctation 13 trials Sub-types →
Familial spontaneous pneumothorax 13 trials
Hereditary anemia 2 trials · 13 incl. sub-types Sub-types →
Ovarian hyperstimulation syndrome 12 trials
Pleomorphic adenoma 12 trials
Familial thoracic aortic aneurysm and aortic dissection 11 trials · 12 incl. sub-types Sub-types →
Spermatogenic failure 1 trial · 12 incl. sub-types Sub-types →
SMAD6-related disease 0 trials · 12 incl. sub-types Sub-types →
CGF1 11 trials
Ankyloglossia 11 trials
Parasomnia, sleep bruxism type 11 trials
Tardive dyskinesia 11 trials
Thyroid Hurthle cell carcinoma 11 trials
Trichotillomania 11 trials
Heritable pulmonary arterial hypertension 10 trials · 11 incl. sub-types Sub-types →
CDKL5 disorder 8 trials · 11 incl. sub-types Sub-types →
Inherited interstitial lung disease 5 trials · 11 incl. sub-types Sub-types →
Progeroid syndrome 3 trials · 11 incl. sub-types Sub-types →
Familial long QT syndrome 1 trial · 11 incl. sub-types Sub-types →
Syndromic microphthalmia 0 trials · 11 incl. sub-types Sub-types →
Phelan-McDermid syndrome 10 trials Sub-types →
Raynaud disease 10 trials
Arthritis, sacroiliac 10 trials
Bile duct cyst 10 trials
Fibrodysplasia ossificans progressiva 10 trials
Hereditary breast carcinoma 10 trials Sub-types →
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 10 trials
Multinodular goiter 10 trials Sub-types →
Myostatin-related muscle hypertrophy 10 trials
Central precocious puberty 9 trials · 10 incl. sub-types Sub-types →
Erythromelalgia 3 trials · 10 incl. sub-types Sub-types →
IgE responsiveness, atopic 9 trials
Familial pancreatic carcinoma 9 trials
Immunodeficiency 32B 9 trials
Impacted teeth, multiple 9 trials
Obesity-hypoventilation syndrome 9 trials
Peripheral arterial occlusive disease 1 9 trials
Inherited obesity 8 trials · 9 incl. sub-types Sub-types →
Syndactyly 3 trials · 9 incl. sub-types Sub-types →
Polydactyly 2 trials · 9 incl. sub-types Sub-types →
Central centrifugal cicatricial alopecia 8 trials
Hyperhidrosis palmaris ET plantaris 8 trials
Lower urinary tract obstruction, congenital 8 trials
Masticatory muscles, hypertrophy of 8 trials
Neuropathy, painful 8 trials
Van der Woude syndrome 8 trials Sub-types →
Severe congenital neutropenia 5 trials · 8 incl. sub-types Sub-types →
Spondylocostal dysostosis 5 trials · 8 incl. sub-types Sub-types →
Familial ovarian cancer 1 trial · 8 incl. sub-types Sub-types →
Silver-Russell syndrome 7 trials Sub-types →
Arterial calcification of infancy 7 trials Sub-types →
Extraskeletal myxoid chondrosarcoma 7 trials Sub-types →
Malposition of teeth with or without hypodontia/oligodontia 7 trials
Protein-losing enteropathy 7 trials
Spermatic cord torsion 7 trials
Febrile seizures, familial 4 trials · 7 incl. sub-types Sub-types →
Amelogenesis imperfecta 3 trials · 7 incl. sub-types Sub-types →
Inherited sideroblastic anemia 2 trials · 7 incl. sub-types Sub-types →
Angioosteohypertrophic syndrome 6 trials
Bundle branch block, familial isolated complete right 6 trials
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 6 trials
Familial isolated congenital asplenia 6 trials
Fibromuscular dysplasia 6 trials Sub-types →
Hereditary chronic pancreatitis 6 trials Sub-types →
Laryngeal adductor paralysis 6 trials
Sclerosteosis 6 trials Sub-types →
Uterine anomalies 6 trials
Hypotrichosis 5 trials · 6 incl. sub-types Sub-types →
Periodontitis, aggressive 4 trials · 6 incl. sub-types Sub-types →
Hereditary pulmonary alveolar proteinosis 3 trials · 6 incl. sub-types Sub-types →
DICER1-related tumor predisposition 1 trial · 6 incl. sub-types Sub-types →
Hereditary gastric cancer 1 trial · 6 incl. sub-types Sub-types →
Leukoencephalopathy, hereditary diffuse, with spheroids 1 trial · 6 incl. sub-types Sub-types →
CSF1R-related disorder 0 trials · 6 incl. sub-types Sub-types →
Primary failure of tooth eruption 5 trials
Progesterone resistance 5 trials
Pulmonic stenosis 5 trials
Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
Hydatidiform mole 3 trials · 5 incl. sub-types Sub-types →
COL4A1/A2-related disorder 2 trials · 5 incl. sub-types Sub-types →
Hereditary Wilms tumor 1 trial · 5 incl. sub-types Sub-types →
Central hypoventilation syndrome, congenital 0 trials · 5 incl. sub-types Sub-types →
Congenital diarrhea 0 trials · 5 incl. sub-types Sub-types →
Hereditary narcolepsy 0 trials · 5 incl. sub-types Sub-types →
Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types Sub-types →
Alopecia universalis 4 trials
Asthma, nasal polyps, and aspirin intolerance 4 trials
Bile acid malabsorption, primary, 1 4 trials
Diastema, dental medial 4 trials
Familial juvenile hypertrophy of the breast 4 trials
Fetal and neonatal alloimmune thrombocytopenia 4 trials Sub-types →
Global developmental delay with or without impaired intellectual development 4 trials
Growth delay due to insulin-like growth factor I resistance 4 trials
Hernia, double inguinal 4 trials
Hyperreflexia 4 trials
Low density lipoprotein cholesterol, mild elevation of 4 trials
Parathyroid gland carcinoma 4 trials
Pulmonary atresia-intact ventricular septum syndrome 4 trials
Urinary bladder, atony of 4 trials
Volvulus of midgut 4 trials Sub-types →
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 3 trials · 4 incl. sub-types Sub-types →
WHIM syndrome 3 trials · 4 incl. sub-types Sub-types →
Prostate cancer, hereditary 1 trial · 4 incl. sub-types Sub-types →
7q11.23 microduplication syndrome 3 trials Sub-types →
Cushing syndrome due to macronodular adrenal hyperplasia 3 trials Sub-types →
Protrusio acetabuli 3 trials
Capillary malformation-arteriovenous malformation syndrome 3 trials Sub-types →
Delayed puberty, self-limited 3 trials
Ear malformation 3 trials Sub-types →
Fibrinolytic defect 3 trials
Genu valgum, st. Helena familial 3 trials
Hematuria, benign familial 3 trials Sub-types →
Patella, familial recurrent dislocation of 3 trials
Pigment dispersion syndrome 3 trials
Popliteal cyst 3 trials
Portal hypertension, noncirrhotic 3 trials Sub-types →
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 3 trials
Spatial visualization, aptitude for 3 trials
Striae distensae, familial 3 trials
Tooth ankylosis 3 trials
Epithelial-stromal TGFBI dystrophy 1 trial · 3 incl. sub-types Sub-types →
AP-4 deficiency syndrome 0 trials · 3 incl. sub-types Sub-types →
Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types Sub-types →
Distal arthrogryposis 0 trials · 3 incl. sub-types Sub-types →
Lethal congenital contracture syndrome 0 trials · 3 incl. sub-types Sub-types →
Achoo syndrome 2 trials
Kabuki syndrome 2 trials Sub-types →
Kasabach-Merritt syndrome 2 trials
Pseudofolliculitis barbae 2 trials
Young syndrome 2 trials
Alcohol sensitivity, acute 2 trials
Anisomastia 2 trials
Arthropathy, erosive 2 trials
Atrichia with papular lesions 2 trials
Bone Paget disease 2 trials Sub-types →
Breath-holding Spells 2 trials
Capillary infantile hemangioma 2 trials
Cardiac valvular defect 2 trials Sub-types →
Celiac trunk compression syndrome 2 trials
Congenital hereditary endothelial dystrophy of cornea 2 trials
Cystic disease of lung 2 trials
Dementia/parkinsonism with non-Alzheimer amyloid plaques 2 trials
Expansile bone lesions 2 trials
Familial thrombocytosis 2 trials Sub-types →
Grouped pigmentation of the retina 2 trials
Histiocytoma, Angiomatoid fibrous 2 trials
Inosine triphosphatase deficiency 2 trials
Insect Stings, hypersensitivity to 2 trials
Insulin-resistance syndrome type A 2 trials
Intussusception 2 trials
Juvenile arthritis due to defect in LACC1 2 trials
Kyphoscoliosis 1 2 trials
Multisystemic smooth muscle dysfunction syndrome 2 trials Sub-types →
Muscular hypertonia, lethal 2 trials
Myelodysplastic syndrome associated with isolated del(5q) 2 trials
Nose, anomalous shape of 2 trials
Platelet aggregation, spontaneous 2 trials
Portal vein, cavernous transformation of 2 trials
Primary pigmented nodular adrenocortical disease 2 trials Sub-types →
Ragweed sensitivity 2 trials
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
Teeth, supernumerary 2 trials
Arthrogryposis multiplex congenita 1 trial · 2 incl. sub-types Sub-types →
Congenital pseudoarthrosis of the limbs 1 trial · 2 incl. sub-types Sub-types →
Dyskinesia with orofacial involvement 1 trial · 2 incl. sub-types Sub-types →
POLR3A-related disorder 0 trials · 2 incl. sub-types Sub-types →
Autoimmune disease, multisystem, infantile-onset 0 trials · 2 incl. sub-types Sub-types →
Cornea plana 0 trials · 2 incl. sub-types Sub-types →
Familial abdominal aortic aneurysm 0 trials · 2 incl. sub-types Sub-types →
Familial hyperaldosteronism 0 trials · 2 incl. sub-types Sub-types →
Hereditary gingival fibromatosis 0 trials · 2 incl. sub-types Sub-types →
Inherited cutis laxa 0 trials · 2 incl. sub-types Sub-types →
Islet cell adenomatosis 0 trials · 2 incl. sub-types Sub-types →
17q11.2 microduplication syndrome 1 trial
A20 haploinsufficiency 1 trial
Axenfeld-Rieger syndrome 1 trial Sub-types →
BENTA disease 1 trial
CFTR-related disorder 1 trial Sub-types →
Caroli syndrome 1 trial
Caronte 1 trial
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 1 trial
Chopra-Amiel-Gordon syndrome 1 trial
Coffin-Siris syndrome 1 trial Sub-types →
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 1 trial
DHDDS-CDG 1 trial Sub-types →
Koolen-de Vries syndrome 1 trial Sub-types →
L-ferritin deficiency 1 trial
Mazabraud syndrome 1 trial
Potocki-Lupski syndrome 1 trial
RNU4ATAC spectrum disorder 1 trial Sub-types →
Rombo syndrome 1 trial
Shashi-Pena syndrome 1 trial
Snijders Blok-Campeau syndrome 1 trial
Taqi polymorphism 1 trial
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 1 trial
Yao syndrome 1 trial
Aganglionosis, total intestinal 1 trial
Androgen insensitivity syndrome 1 trial Sub-types →
Anisocoria 1 trial
Arcus senilis 1 trial
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 1 trial
Beta-aminoisobutyric acid, urinary excretion of 1 trial
Central areolar choroidal dystrophy 1 trial Sub-types →
Chromosome 15q24 deletion syndrome 1 trial
Congenital bilateral absence of vas deferens 1 trial Sub-types →
Congenital insensitivity to pain syndrome, Marsili type 1 trial
Coracoclavicular joint, anomalous 1 trial
Coxa vara 1 trial
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 trial
Dysautonomia-like disorder 1 trial
Early repolarization associated with ventricular fibrillation 1 trial
Electroencephalographic peculiarity: fronto-precentral beta wave groups 1 trial
Eosinophilia, familial 1 trial
Esophagitis, eosinophilic, 1 1 trial
Familial male-limited precocious puberty 1 trial
Familial melanoma 1 trial Sub-types →
Fleck corneal dystrophy 1 trial
Focal dermal hypoplasia 1 trial
Foveal hypoplasia 1 trial Sub-types →
Frontonasal dysplasia 1 trial Sub-types →
Graying of hair, precocious 1 trial
Growth delay due to insulin-like growth factor type 1 deficiency 1 trial
Hereditary arterial and articular multiple calcification syndrome 1 trial
Horizontal gaze palsy with progressive scoliosis 1 trial Sub-types →
Hyperpigmentation of eyelid 1 trial
Hypoparathyroidism-deafness-renal disease syndrome 1 trial
Ichthyosis prematurity syndrome 1 trial
Immunodysregulation with variable immunodeficiency and autoimmunity 1 trial
Levator-medial rectus synkinesis 1 trial
Lumbar stenosis, familial 1 trial
Megalodactyly 1 trial
Microtia with meatal atresia and conductive deafness 1 trial
Modifier, X-linked, for Neurofunctional defects 1 trial
Myeloperoxidase deficiency 1 trial
Nasal alar collapse, bilateral 1 trial
Neutropenia, chronic familial 1 trial
Nocturnal enuresis, 2 1 trial
Nonimmune chronic idiopathic neutropenia of adults 1 trial
Papillomatosis, confluent and reticulated 1 trial
Pernicious anemia 1 trial
Platelet membrane fluidity 1 trial
Posterior polymorphous corneal dystrophy 1 trial Sub-types →
Premature centromere division 1 trial
Progressive deafness with stapes fixation 1 trial
Prolactin deficiency, isolated 1 trial
Pulmonary atresia with ventricular septal defect 1 trial
Pyropoikilocytosis, hereditary 1 trial
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 1 trial
Tarsal coalition 1 trial
Taurodontism 1 trial
Trichomegaly 1 trial Sub-types →
Triphalangeal thumb, Nonopposable 1 trial
Tune deafness 1 trial
Urolithiasis, uric acid, autosomal dominant 1 trial
Visceral heterotaxy 1 trial Sub-types →
ACAN-related short stature spectrum 0 trials · 1 incl. sub-types Sub-types →
CACNA1C-related disorder 0 trials · 1 incl. sub-types Sub-types →
ELANE-related neutropenia 0 trials · 1 incl. sub-types Sub-types →
Mendelian encephalopathy 0 trials · 1 incl. sub-types Sub-types →
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 0 trials · 1 incl. sub-types Sub-types →
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
TOR1AIP1-related nuclear envelopathy 0 trials · 1 incl. sub-types Sub-types →
WFS1-related disorder 0 trials · 1 incl. sub-types Sub-types →
Y-linked disease 0 trials · 1 incl. sub-types Sub-types →
Acrofacial dysostosis 0 trials · 1 incl. sub-types Sub-types →
Contractures, pterygia, and variable skeletal fusions syndrome 0 trials · 1 incl. sub-types Sub-types →
Epilepsy, early-onset 0 trials · 1 incl. sub-types Sub-types →
Familial vesicoureteral reflux 0 trials · 1 incl. sub-types Sub-types →
Gastrointestinal defect and immunodeficiency syndrome 0 trials · 1 incl. sub-types Sub-types →
Growth hormone insensitivity syndrome with immune dysregulation 0 trials · 1 incl. sub-types Sub-types →
Hereditary gallbladder disorder 0 trials · 1 incl. sub-types Sub-types →
Hypothyroidism, congenital, nongoitrous 0 trials · 1 incl. sub-types Sub-types →
Infantile liver failure 0 trials · 1 incl. sub-types Sub-types →
Isolated congenital breast hypoplasia/aplasia 0 trials · 1 incl. sub-types Sub-types →
Isolated microphthalmia 0 trials · 1 incl. sub-types Sub-types →
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 0 trials · 1 incl. sub-types Sub-types →
Pancreatic agenesis 0 trials · 1 incl. sub-types Sub-types →
Split hand-foot malformation 0 trials · 1 incl. sub-types Sub-types →
3MC syndrome 0 trials Sub-types →
46,XX sex reversal 1 0 trials
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 0 trials
46,xx sex reversal 5 0 trials
5-hydroxytryptamine oxygenase regulator 0 trials
6-phosphogluconolactonase deficiency 0 trials
ACCES syndrome 0 trials
ACD-related telomere biology disorder 0 trials Sub-types →
ADNP-related blepharophimosis-intellectual disability syndrome 0 trials
AKT3-related overgrowth spectrum 0 trials Sub-types →
Abruzzo-Erickson syndrome 0 trials
Achard syndrome 0 trials
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia 0 trials
Adams-Oliver syndrome 0 trials Sub-types →
Alazami-Yuan syndrome 0 trials
Alfadhel syndrome 0 trials
Alkuraya-Kucinskas syndrome 0 trials
Amobarbital, deficient N-hydroxylation of 0 trials
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 0 trials
Armfield syndrome 0 trials
Atelis syndrome 0 trials Sub-types →
Athrombia, essential 0 trials
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 0 trials
Ayme-Gripp syndrome 0 trials
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 trials
BAFopathy 0 trials Sub-types →
BMP4-related ocular growth disorder 0 trials Sub-types →
Bamforth-Lazarus syndrome 0 trials
Baralle-Macken syndrome 0 trials
Basilicata-Akhtar syndrome 0 trials
Beck-Fahrner syndrome 0 trials
Birbeck granule deficiency 0 trials
Boudin-Mortier syndrome 0 trials
Bowen syndrome of multiple malformations 0 trials
Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay 0 trials
Brachymetatarsus 4 0 trials
Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
Braddock-Carey syndrome 0 trials Sub-types →
Bryant-Li-Bhoj neurodevelopmental syndrome 0 trials Sub-types →
Buratti-Harel syndrome 0 trials
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 0 trials
CEBALID syndrome 0 trials
CHAND syndrome 0 trials
CLAPO syndrome 0 trials
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 0 trials Sub-types →
Camptosynpolydactyly, complex 0 trials
Car factor deficiency 0 trials
Carabelli anomaly of maxillary molar teeth 0 trials
Cardioneuromyopathy with hyaline masses and nemaline rods 0 trials
Carey-Fineman-Ziter syndrome 0 trials Sub-types →
Catifa syndrome 0 trials
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita 0 trials
Chitayat syndrome 0 trials
Chondronectin 0 trials
Christianson syndrome 0 trials
Chudley-McCullough syndrome 0 trials
Cohen-Gibson syndrome 0 trials
Crane-Heise syndrome 0 trials
Cree intellectual disability syndrome 0 trials
DEGCAGS syndrome 0 trials
DNA, low-repetitive sequences of 0 trials
DNA, satellite, 3 0 trials
DONSON-related microcephaly-short stature-limb abnormalities spectrum 0 trials
DOORS syndrome 0 trials
Darwinian tubercle of pinna 0 trials
Dauwerse-Peters syndrome 0 trials
DeSanto-Shinawi syndrome due to WAC point mutation 0 trials
Devriendt syndrome 0 trials
Diamond-Blackfan anemia-like 0 trials
Diets-Jongmans syndrome 0 trials
Dohle bodies and leukemia 0 trials
Dursun syndrome 0 trials
Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin 0 trials
EDICT syndrome 0 trials
EN1-related dorsoventral syndrome 0 trials Sub-types →
EPHB4-associated vascular malformation spectrum 0 trials Sub-types →
Elsahy-Waters syndrome 0 trials
Emanuel syndrome 0 trials
Eosinophilopenia 0 trials
FDXR-related optic atrophy mitochondrial dysfunction syndrome 0 trials Sub-types →
FG syndrome 0 trials Sub-types →
FICUS syndrome 0 trials
FRAXD syndrome 0 trials
FRAXF syndrome 0 trials
Fanconi-like syndrome 0 trials Sub-types →
Faundes-Banka syndrome 0 trials
Fliedner-Zweier syndrome 0 trials
Floating-Harbor syndrome 0 trials
Fowler syndrome 0 trials
Fraser-like syndrome 0 trials
Freesia Flowers, inability to smell 0 trials
Friedreich ataxia and congenital glaucoma 0 trials
Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness 0 trials
GATA1-Related X-Linked Cytopenia 0 trials Sub-types →
GCGR-related hyperglucagonemia 0 trials
GOMBO syndrome 0 trials
GRACILE syndrome 0 trials
Gabriele de Vries syndrome 0 trials
Gamstorp-Wohlfart syndrome 0 trials
Giacheti syndrome 0 trials
Glucoglycinuria 0 trials
Goldberg-Shprintzen syndrome 0 trials
Grant syndrome 0 trials
Guillouet-Gordon syndrome 0 trials
Guttmacher syndrome 0 trials
Halothane hepatitis 0 trials
Hengel-Maroofian-Schols syndrome 0 trials
Heyn-Sproul-Jackson syndrome 0 trials
Hhhh syndrome 0 trials
Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 0 trials
Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 0 trials
Hirschsprung disease, cardiac defects, and autonomic dysfunction 0 trials
Hooft disease 0 trials
Houge-Janssens syndrome 0 trials Sub-types →
Hoxha-Aliu syndrome 0 trials
Hunter-Macdonald syndrome 0 trials
Huppke-Brendel syndrome 0 trials
Hutterite cerebroosteonephrodysplasia syndrome 0 trials
ICHAD syndrome 0 trials
IVIC syndrome 0 trials
Imagawa-Matsumoto syndrome 0 trials
Jaberi-Elahi syndrome 0 trials
Jalili syndrome 0 trials
Jawad syndrome 0 trials
Juberg-Hayward syndrome 0 trials
Jumping Frenchmen of Maine 0 trials
KLHL7-related Bohring-Opitz-like syndrome 0 trials
Kallmann syndrome with spastic paraplegia 0 trials
Karsch-Neugebauer syndrome 0 trials
Kaya-Barakat-Masson syndrome 0 trials
Keipert syndrome 0 trials
Khan-Khan-Katsanis syndrome 0 trials
Kifafa seizure disorder 0 trials
Kleefstra syndrome 0 trials Sub-types →
Kniest-like dysplasia with pursed lips and ectopia lentis 0 trials
Kohlschutter-Tonz syndrome-like 0 trials
Kury-Isidor syndrome 0 trials
Kyrle disease 0 trials
LTBP2-related ocular dysgenesis 0 trials Sub-types →
Lamb-Shaffer syndrome 0 trials
Lambotte syndrome 0 trials
Lessel-Kreienkamp syndrome 0 trials
Leydig cell hypoplasia, type 1 0 trials Sub-types →
Li-Campeau syndrome 0 trials
Li-Ghorbani-Weisz-Hubshman syndrome 0 trials
Liang-Wang syndrome 0 trials
Liberfarb syndrome 0 trials
Lisch epithelial corneal dystrophy 0 trials
Long-Olsen-Distelmaier syndrome 0 trials
Lopes-Maciel-Rodan syndrome 0 trials
Lui-Jee-Baron syndrome 0 trials
Luo-Schoch-Yamamoto syndrome 0 trials
Luscan-Lumish syndrome 0 trials
MECOM-associated syndrome 0 trials Sub-types →
MIRAGE syndrome 0 trials
MOMO syndrome 0 trials
MORM syndrome 0 trials
MTOR-related overgrowth spectrum 0 trials
Malan overgrowth syndrome 0 trials
Mammastatin 0 trials
Marinesco-Sjogren-like syndrome 0 trials
Martinez-Frias syndrome 0 trials
Meacham syndrome 0 trials
Meckel diverticulum 0 trials
Meesmann corneal dystrophy 0 trials Sub-types →
Meester-Loeys syndrome 0 trials
Megarbane syndrome 0 trials
Megarbane-Jalkh syndrome 0 trials
Melhem-Fahl syndrome 0 trials
Menke-Hennekam syndrome 0 trials Sub-types →
Monophalangy of great toe 0 trials
Moynahan syndrome 0 trials
Muggenthaler-Chowdhury-Chioza syndrome 0 trials
Mullegama-Klein-Martinez syndrome 0 trials
Mungan syndrome 0 trials
N-acetylaspartate deficiency 0 trials
NDUFB11-related disorders 0 trials Sub-types →
NR2F2 related multiple congenital anomalies/dysmorphic syndrome 0 trials
NR5A1-related sex development disorder 0 trials Sub-types →
Nance-Horan syndrome 0 trials
Nguyen syndrome 0 trials
Nizon-Isidor syndrome 0 trials
O'Donnell-Luria-Rodan syndrome 0 trials
Okt4 epitope deficiency 0 trials
Onychotrichodysplasia and neutropenia 0 trials
Opitz G/BBB syndrome 0 trials Sub-types →
Opticocochleodentate degeneration 0 trials
Oroacral syndrome, Verloes-Koulischer type 0 trials
Osebold skeletal dysplasia/osteolysis syndrome 0 trials
PI4KA-related disorder 0 trials Sub-types →
PIK3R1-related immunodeficiency and SHORT syndrome 0 trials Sub-types →
PMP22-RAI1 contiguous gene duplication syndrome 0 trials
POLR1C-related disorder 0 trials Sub-types →
POLR3B-related disorder 0 trials Sub-types →
PR interval, variation in 0 trials
Paine syndrome 0 trials
Pan-Chung-Bellen syndrome 0 trials
Paramolar tubercle of bolk 0 trials
Parotidomegaly, hereditary bilateral 0 trials
Partington-Anderson syndrome 0 trials
Passovoy factor defect 0 trials
Pechet factor deficiency 0 trials
Perlman syndrome 0 trials
Pierre Robin syndrome-faciodigital anomaly syndrome 0 trials
Pilotto syndrome 0 trials
Polyosteolysis-hyperostosis syndrome 0 trials
Prepapillary vascular loops 0 trials
Primrose syndrome 0 trials
Pseudoatrophoderma colli 0 trials
Pseudopili annulati 0 trials
Pseudouridinuria and mental defect 0 trials
Rabin-Pappas syndrome 0 trials
Rabson-Mendenhall syndrome 0 trials
Radio-Tartaglia syndrome 0 trials
Rahman syndrome 0 trials
Ramon syndrome 0 trials
Rauch-Steindl syndrome 0 trials
Reese retinal dysplasia 0 trials
Reynolds syndrome 0 trials
Robin sequence-oligodactyly syndrome 0 trials
Robinow-Sorauf syndrome 0 trials
Roussy-Levy syndrome 0 trials
Rowley-Rosenberg syndrome 0 trials
SEC61A1 deficiency 0 trials Sub-types →
STAD syndrome 0 trials
SYCE1-related gametogenic failure 0 trials Sub-types →
Sabinas brittle hair syndrome 0 trials
Sakoda complex 0 trials
Santos syndrome 0 trials
Schnyder corneal dystrophy 0 trials
Sener syndrome 0 trials
Short stature, Dauber-Argente type 0 trials
Shukla-Vernon syndrome 0 trials
Siddiqi syndrome 0 trials
Sifrim-Hitz-Weiss syndrome 0 trials
Simpson-Golabi-Behmel syndrome type 1 0 trials
Simpson-Golabi-Behmel syndrome type 2 0 trials
Sjogren-Larsson-like ichthyosis without CNS or eye involvement 0 trials
Skraban-Deardorff syndrome 0 trials
Somatomedin, embryonic 0 trials
Spondylospinal thoracic dysostosis 0 trials
Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features 0 trials
Stevenson-Carey syndrome 0 trials
Stuve-Wiedemann syndrome 0 trials Sub-types →
Suleiman-El-Hattab syndrome 0 trials
Sweeney-Cox syndrome 0 trials
T-cell Subgroups, non-HLA-linked 0 trials
T-cell immunodeficiency with epidermodysplasia verruciformis 0 trials
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 trials
T-substance anomaly 0 trials
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 trials
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 0 trials Sub-types →
TPM4-related platelet disorder 0 trials
TRAF3 haploinsufficiency 0 trials
Tan-Almurshedi syndrome 0 trials
Tayoun-Maawali syndrome 0 trials
Teebi hypertelorism syndrome 0 trials Sub-types →
Tenorio syndrome 0 trials
Tented eyebrows 0 trials
Tessadori-Van-Haaften neurodevelopmental syndrome 0 trials Sub-types →
Thai symphalangism syndrome 0 trials
Tn polyagglutination syndrome 0 trials
Tolchin-Le Caignec syndrome 0 trials
Tonoki syndrome 0 trials
Tristichiasis 0 trials
Tryptophanuria with dwarfism 0 trials
Tuftsin deficiency 0 trials
Tyrosinosis 0 trials
Undritz anomaly 0 trials
Upington disease 0 trials
Usher syndrome, type 1M 0 trials
Usmani-Riazuddin syndrome, autosomal dominant 0 trials
Usmani-Riazuddin syndrome, autosomal recessive 0 trials
VACTERL association, X-linked, with or without hydrocephalus 0 trials
VISS syndrome 0 trials
Valinemia 0 trials
Ververi-Brady syndrome 0 trials Sub-types →
Vissers-Bodmer syndrome 0 trials
Warsaw breakage syndrome 0 trials
Webb-Dattani syndrome 0 trials
Weyers ulnar ray/oligodactyly syndrome 0 trials
White-Kernohan syndrome 0 trials
Wiedemann-Steiner syndrome 0 trials
Wolfram syndrome 2 0 trials
Woronets trait 0 trials
X inactivation, familial skewed 0 trials Sub-types →
X-linked complicated corpus callosum dysgenesis 0 trials
Y chromosome infertility due to DAZ1 deletion 0 trials
Yuksel-Vogel-Bauer syndrome 0 trials
ZTTK syndrome 0 trials
Zaki syndrome 0 trials
Zimmermann-Laband syndrome 0 trials Sub-types →
Ablepharon macrostomia syndrome 0 trials
Absence deformity of leg-cataract syndrome 0 trials
Absent radius-anogenital anomalies syndrome 0 trials
Acetyl-CoA acetyltransferase-2 deficiency 0 trials
Acetyl-coa carboxylase deficiency 0 trials
Acetylation, slow 0 trials
Achalasia, familial esophageal 0 trials
Acinar dysplasia caused by mutation in FGF10 0 trials
Acinar dysplasia caused by mutation in FGFR2 0 trials
Acinar dysplasia caused by mutation in TBX4 0 trials
Acroleukopathy, symmetric 0 trials
Acromegaloid changes, cutis verticis gyrata, and corneal leukoma 0 trials
Acromegaloid features, overgrowth, cleft palate, and hernia 0 trials
Acromial dimples 0 trials
Acroosteolysis-keloid-like lesions-premature aging syndrome 0 trials
Acute insulin response 0 trials
Adenosine triphosphatase deficiency, anemia due to 0 trials
Advanced sleep phase syndrome 0 trials Sub-types →
Agenesis of cerebral white matter 0 trials
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 trials
Agenesis of the corpus callosum and congenital lymphedema 0 trials
Agnathia-otocephaly complex 0 trials
Alar cleft, isolated 0 trials
Alopecia - intellectual disability syndrome 0 trials Sub-types →
Alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia 0 trials
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0 trials
Alpha-thalassemia-myelodysplastic syndrome 0 trials
Amastia, bilateral, with ureteral triplication and dysmorphism 0 trials
Amegakaryocytic thrombocytopenia, congenital, 2 0 trials
Amelia and terminal transverse hemimelia 0 trials
Amelia cleft lip palate hydrocephalus iris coloboma 0 trials
Amenorrhea-galactorrhea syndrome 0 trials
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 0 trials
Amyloidosis of gingiva and conjunctiva, with intellectual disability 0 trials
Amyloidosis, cutaneous bullous 0 trials
Amyotonia congenita 0 trials
Amyotrophic dystonic paraplegia 0 trials
Anal sphincter dysplasia 0 trials
Anal sphincter myopathy, internal 0 trials
Anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome 0 trials
Anemia, hypochromic microcytic with iron overload 0 trials Sub-types →
Angiokeratoma corporis diffusum with arteriovenous fistulas 0 trials
Angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert 0 trials
Anhaptoglobinemia 0 trials
Aniridia - intellectual disability syndrome 0 trials
Aniridia, microcornea, and spontaneously Reabsorbed cataract 0 trials
Aniridia-absent patella syndrome 0 trials
Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
Annular erythema 0 trials
Anonychia-ectrodactyly 0 trials
Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 0 trials
Anosmia for isobutyric acid 0 trials
Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis 0 trials
Antigen defined by monoclonal antibody Aj9 0 trials
Antigen defined by monoclonal antibody T87 0 trials
Antithrombin, familial hemorrhagic diathesis due to 0 trials
Aortic arch interruption, facial palsy, and retinal coloboma 0 trials
Aplasia of lacrimal and salivary glands 0 trials
Apraxia of eyelid opening 0 trials
Ariboflavinosis 0 trials Sub-types →
Arms, malformation of 0 trials
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 0 trials
Arteries, anomalies of 0 trials
Arteriosclerosis, severe juvenile 0 trials
Arteritis, familial granulomatous, with juvenile polyarthritis 0 trials
Arthrogryposis multiplex with deafness, inguinal hernias, and early death 0 trials
Arthrogryposis, Perthes disease, and upward gaze palsy 0 trials
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 trials
Arthrogryposis, congenital, lower limb, X-linked 0 trials
Arthrogryposis, distal, with intellectual disability and characteristic facies 0 trials
Aspirin resistance 0 trials
Asthma, short stature, and elevated IgA 0 trials
Asymmetric short stature syndrome 0 trials
Ataxia with myoclonic epilepsy and presenile dementia 0 trials
Ataxia, deafness, and cardiomyopathy 0 trials
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 trials
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 0 trials
Ataxia-microcephaly-cataract syndrome 0 trials
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 0 trials
Atonic-astatic syndrome of Foerster 0 trials
Atrial septal defect, secundum, with various cardiac and Noncardiac defects 0 trials
Atrophia maculosa varioliformis cutis, familial 0 trials
Aurocephalosyndactyly 0 trials
Autoinflammation with arthritis and dyskeratosis 0 trials
Autoinflammation with arthritis and vasculitis 0 trials
Autoinflammation with episodic fever and immune dysregulation 0 trials
Autoinflammation with episodic fever and lymphadenopathy 0 trials
Autoinflammation with pulmonary and cutaneous vasculitis 0 trials
Autoinflammation, immune dysregulation, and eosinophilia 0 trials
Autoinflammation, panniculitis, and dermatosis syndrome 0 trials Sub-types →
Autosomal dominant deafness - onychodystrophy syndrome 0 trials
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 0 trials
Autosomal dominant wooly hair 0 trials
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0 trials
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 0 trials
Azoospermia, obstructive, with nephrolithiasis 0 trials
Azotemia, familial 0 trials
Baculum, congenital absence of 0 trials
Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification 0 trials
Beta-amino acids, renal transport of 0 trials
Bilateral microtia-deafness-cleft palate syndrome 0 trials
Bile acid conjugation defect 1 0 trials
Bile acid malabsorption, primary, 2 0 trials
Bile and pancreatic ducts, complete absence of 0 trials
Biliary malformation with renal tubular insufficiency 0 trials
Biliary, renal, neurologic, and skeletal syndrome 0 trials
Bipartite talus 0 trials
Bladder diverticulum 0 trials Sub-types →
Blepharochalasis, superior 0 trials
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 trials
Blepharophimosis-impaired intellectual development syndrome 0 trials
Blistering, acantholytic, of oral and laryngeal mucosa 0 trials
Blue nevi, familial multiple 0 trials
Bone marrow failure and diabetes mellitus syndrome 0 trials
Bone pain, periodic 0 trials
Brachial palsy, familial congenital 0 trials
Brachycephaly, trichomegaly, and developmental delay 0 trials
Brachydactyly 0 trials Sub-types →
Brachydactyly, coloboma, and anterior segment dysgenesis 0 trials
Brachydactyly, intraventricular septal defect, and deafness 0 trials
Brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability 0 trials
Brachydactyly, type A2, with microcephaly 0 trials
Brachymesomelia-renal syndrome 0 trials
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 0 trials
Brain malformation renal syndrome 0 trials
Branchial myoclonus with spastic paraparesis and cerebellar ataxia 0 trials
Branchiootic syndrome 0 trials Sub-types →
Broad terminal phalanges, familial 0 trials
Bronchiectasis and nasal polyposis 0 trials
Bullous dystrophy, macular type 0 trials
Butyrylesterase 1 0 trials
Calcific aortic disease with immunologic abnormalities, familial 0 trials
Camera-Marugo-Cohen syndrome 0 trials
Camptodactyly syndrome, Guadalajara 0 trials Sub-types →
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
Camptodactyly-ichthyosis syndrome 0 trials
Cancer, familial, with in vitro Radioresistance 0 trials
Canine teeth, absence of upper permanent 0 trials
Carboxypeptidase N deficiency 0 trials
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 trials
Cardiac septal defects with coarctation of the aorta 0 trials
Cardiac, facial, and digital anomalies with developmental delay 0 trials
Cardiac-urogenital syndrome 0 trials
Cardioacrofacial dysplasia 0 trials Sub-types →
Cardioauditory syndrome of Sanchez Cascos 0 trials
Cardiofacioneurodevelopmental syndrome 0 trials
Cardiomyopathy associated with myopathy and sudden death 0 trials
Cardiomyopathy, fatal fetal, due to myocardial calcification 0 trials
Cardiomyopathy, infantile hypertrophic 0 trials
Carnitine acetyltransferase deficiency 0 trials
Carnitine deficiency, myopathic 0 trials
Carpal displacement 0 trials
Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 0 trials
Cataract, ataxia, short stature, and intellectual disability 0 trials
Cataract, congenital, with mental impairment and dentate gyrus atrophy 0 trials
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 0 trials Sub-types →
Caudal duplication 0 trials
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome 0 trials
Celiac disease-epilepsy-cerebral calcification syndrome 0 trials
Central incisors, absence of 0 trials
Cephalin lipidosis 0 trials
Cerebellar ataxia and neurosensory deafness 0 trials
Cerebellar ataxia, benign, with thermoanalgesia 0 trials
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0 trials
Cerebellar atrophy with seizures and variable developmental delay 0 trials
Cerebellar atrophy, developmental delay, and seizures 0 trials
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 0 trials
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0 trials
Cerebellar, ocular, craniofacial, and genital syndrome 0 trials
Cerebelloparenchymal disorder 0 trials Sub-types →
Cerebral angiopathy, dysphoric 0 trials
Cerebral malformation, seizures, hypertrichosis, and overlapping fingers 0 trials
Cerebral sclerosis, diffuse, scholz type 0 trials
Cerebrocortical degeneration of infancy 0 trials
Cervical hypertrichosis with underlying kyphoscoliosis 0 trials
Cervical rib disease 0 trials
Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction 0 trials
Cervical vertebrae, agenesis of 0 trials
Cervical vertebral Bridge 0 trials
Cervical vertebral dysplasia 0 trials
Chemodectoma, intraabdominal, with cutaneous angiolipomas 0 trials
Chloramphenicol toxicity 0 trials
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 trials
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 trials
Cholestasis with gallstone, ataxia, and visual disturbance 0 trials
Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 trials
Cholesteatoma, congenital 0 trials
Cholesterol pneumonia 0 trials
Chondrodysplasia-pseudohermaphroditism syndrome 0 trials
Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome 0 trials
Chorea, childhood-onset, with psychomotor retardation 0 trials
Choroidal osteoma, bilateral 0 trials
Chromosomal instability with tissue-specific radiosensitivity 0 trials
Chromosome 16 inversion, 0.45-Mb 0 trials
Chromosome 18 pericentric inversion 0 trials
Chromosome 1p32-p31 deletion syndrome 0 trials
Chromosome 1p35 deletion syndrome 0 trials
Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant 0 trials
Chromosome 4Q32.1-q32.2 triplication syndrome 0 trials
Chronic atrial and intestinal dysrhythmia 0 trials
Chronic mast cell leukemia 0 trials
Circumvallate placenta syndrome 0 trials
Citrulline transport defect 0 trials
Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia 0 trials
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 0 trials
Cleft palate, proliferative retinopathy, and developmental delay 0 trials
Cleft palate-large ears-small head syndrome 0 trials
Cocoon syndrome 0 trials
Cognitive impairment with or without cerebellar ataxia 0 trials
Colloid cysts of third ventricle 0 trials
Coloboma, ocular, autosomal dominant 0 trials Sub-types →
Coloboma, ocular, autosomal recessive 0 trials
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 0 trials
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 0 trials
Colonic varices without portal hypertension 0 trials
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0 trials
Combined low LDL and fibrinogen 0 trials
Combined oxidative phosphorylation deficiency 49 0 trials
Combined oxidative phosphorylation deficiency 50 0 trials
Comedones, familial Dyskeratotic 0 trials
Commissural lip pits 0 trials
Complement factor b deficiency 0 trials
Conductive deafness-malformed external ear syndrome 0 trials
Cone-rod dystrophy and hearing loss 0 trials Sub-types →
Cone-rod synaptic disorder syndrome, congenital nonprogressive 0 trials
Congenital analbuminemia 0 trials
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 trials
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 trials
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 0 trials
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 trials
Congenital disorder of glycosylation, type i/IIx 0 trials
Congenital enteropathy due to enteropeptidase deficiency 0 trials
Congenital heart defects and ectodermal dysplasia 0 trials
Congenital heart defects and skeletal malformations syndrome 0 trials
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 trials
Congenital heart defects, multiple types, 7 0 trials
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 trials
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 0 trials
Congenital pseudoarthrosis of clavicle 0 trials
Congenital short bowel syndrome, autosomal recessive 0 trials
Congenital smooth muscle hamartoma, with or without hemihypertrophy 0 trials
Congenital stromal corneal dystrophy 0 trials
Congenital vertical talus 0 trials Sub-types →
Convulsive disorder, familial, with prenatal or early onset 0 trials
Cornea guttata with anterior polar cataracts 0 trials
Corneal degeneration, band-shaped spheroid 0 trials
Corneal degeneration, ribbonlike, with deafness 0 trials
Corneal dystrophy, punctiform and polychromatic pre-descemet 0 trials
Corneal dystrophy-perceptive deafness syndrome 0 trials
Corpus callosum agenesis-abnormal genitalia syndrome 0 trials
Corticosteroid-binding globulin deficiency 0 trials
Corticosterone methyloxidase type 2 deficiency 0 trials
Coumarin resistance 0 trials
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay 0 trials
Cranial nerves, congenital paresis of 0 trials
Cranial nerves, recurrent paresis of 0 trials
Cranioacrofacial syndrome 0 trials
Craniofacial anomalies and anterior segment dysgenesis syndrome 0 trials
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0 trials Sub-types →
Craniofacial dysplasia - osteopenia syndrome 0 trials
Craniofacial-deafness-hand syndrome 0 trials
Craniofaciocardiohepatic syndrome 0 trials
Craniolenticulosutural dysplasia 0 trials
Craniometadiaphyseal osteosclerosis with hip dysplasia 0 trials
Craniorhiny 0 trials
Craniosynostosis with anomalies of the cranial base and digits 0 trials
Craniosynostosis-intellectual disability syndrome of 51N and Gettig 0 trials
Craniosynostosis-intellectual disability-clefting syndrome 0 trials
Craniosynostosis-scoliosis syndrome 0 trials
Creases, infra-auricular cutaneous, with tall stature and advanced bone age 0 trials
Creatine phosphokinase, elevated serum 0 trials
Crumpled helices and small mouth 0 trials
Cryofibrinogenemia, familial primary 0 trials
Cryptotia, familial 0 trials
Curved nail of fourth toe 0 trials
Cutis verticis gyrata and intellectual disability 0 trials
Cutis verticis gyrata, thyroid aplasia, and intellectual disability 0 trials
Cyanosis and hepatic disease 0 trials
Cyanosis, transient neonatal 0 trials Sub-types →
Cysteine Peptiduria 0 trials
Dandy-walker malformation with occipital cephalocele, autosomal dominant 0 trials
De Sanctis-Cacchione syndrome 0 trials
Deafness with anhidrotic ectodermal dysplasia 0 trials
Deafness with labyrinthine aplasia, microtia, and microdontia 0 trials
Deafness, cataract, impaired intellectual development, and polyneuropathy 0 trials
Deafness, cataract, retinitis pigmentosa, and sperm abnormalities 0 trials
Deafness, congenital heart defects, and posterior embryotoxon 0 trials
Deafness, congenital, and adult-onset progressive leukoencephalopathy 0 trials
Deafness, congenital, and familial myoclonic epilepsy 0 trials
Deafness, mid-tone neural 0 trials
Deafness, neural, congenital moderate 0 trials
Deafness, neural, with atypical atopic dermatitis 0 trials
Deafness, sensorineural, with peripheral neuropathy and arterial disease 0 trials
Deafness, unilateral, with delayed endolymphatic hydrops 0 trials
Deafness-ear malformation-facial palsy syndrome 0 trials
Deafness-epiphyseal dysplasia-short stature syndrome 0 trials
Deafness-small bowel diverticulosis-neuropathy syndrome 0 trials
Deafness-vitiligo-achalasia syndrome 0 trials
Deeah syndrome 0 trials
Dens evaginatus 0 trials
Dens in dente and palatal invaginations 0 trials
Dental radicular dysplasia 0 trials
Dentin dysplasia type I 0 trials Sub-types →
Dentin dysplasia type II 0 trials
Dentin dysplasia-sclerotic bones syndrome 0 trials
Dentinogenesis imperfecta type 2 0 trials Sub-types →
Dentinogenesis imperfecta type 3 0 trials
Deoxyribose-5-phosphate aldolase deficiency 0 trials
Dermal Ridges, patternless 0 trials
Developmental delay with dysmorphic facies and dental anomalies 0 trials
Developmental delay with hypotonia, myopathy, and brain abnormalities 0 trials
Developmental delay with or without dysmorphic facies and autism 0 trials
Developmental delay with or without epilepsy 0 trials
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 trials
Developmental delay with short stature, dysmorphic facial features, and sparse hair 0 trials Sub-types →
Developmental delay with sleep apnea 0 trials
Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies 0 trials
Developmental delay with variable intellectual disability and dysmorphic facies 0 trials
Developmental delay with variable neurologic and brain abnormalities 0 trials
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 trials
Developmental delay, dysmorphic facies, and brain anomalies 0 trials
Developmental delay, hypotonia, and impaired language 0 trials
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 trials
Developmental delay, impaired speech, and behavioral abnormalities 0 trials
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 trials
Developmental delay, language impairment, and ocular abnormalities 0 trials
Dextrocardia with unusual facies and microphthalmia 0 trials
Diabetes mellitus, congenital autoimmune 0 trials
Diabetes, deafness, developmental delay, and short stature syndrome 0 trials
Diaminopentanuria 0 trials
Diarrhea, glucose-stimulated secretory, with common variable immunodeficiency 0 trials
Diencephalic-mesencephalic junction dysplasia 0 trials Sub-types →
Diffuse idiopathic skeletal hyperostosis 0 trials
Dilution, pigmentary 0 trials
Disabling pansclerotic morphea of childhood 0 trials
Discrimination, Two-point, reduction 1N 0 trials
Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability 0 trials
Disseminated sclerosis with narcolepsy 0 trials
Distal monosomy 10p 0 trials Sub-types →
Distal osteosclerosis 0 trials
Distal symphalangism 0 trials
Distichiasis with congenital anomalies of the heart and peripheral vasculature 0 trials
Double fingernail of fifth finger 0 trials
Double nail for fifth toe 0 trials
Duodenal ulcer due to antral G-cell hyperfunction 0 trials
Duodenal ulcer, hyperpepsinogenemic 1 0 trials
Duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery 0 trials
Dwarfism with stiff joints and ocular abnormalities 0 trials
Dwarfism with tall vertebrae 0 trials
Dwarfism, Levi type 0 trials
Dwarfism, familial, with muscle spasms 0 trials
Dwarfism, intellectual disability, and eye abnormality 0 trials
Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 0 trials
Dwarfism, proportionate, with hip dislocation 0 trials
Dyschromatosis, ichthyosis, deafness, and atopic disease 0 trials
Dysmorphism-cleft palate-loose skin syndrome 0 trials
Dysmyelination with jaundice 0 trials
Dysostosis multiplex, Ain-Naz type 0 trials
Dysraphism-cleft lip/palate-limb reduction defects syndrome 0 trials
Dystelephalangy 0 trials
Dystonia with Ringbinden 0 trials
Dystonia with cerebellar atrophy 0 trials
Dystonia, early-onset, and/or spastic paraplegia 0 trials
Ear antitragus, tag at base of 0 trials
Ear exostoses 0 trials
Ear folding 0 trials
Ear pits, posterior helical 0 trials
Early response to neural induction gene 0 trials
Early-onset familial hypoaldosteronism 0 trials
Eccrine syringofibroadenomatosis with eyelid abnormalities 0 trials
Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 0 trials
Ectodermal dysplasia with adrenal cyst 0 trials
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0 trials
Ectodermal dysplasia with intellectual disability and syndactyly 0 trials
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 0 trials
Ectopia lentis 1, isolated, autosomal dominant 0 trials
Ectopia lentis 2, isolated, autosomal recessive 0 trials
Ectopia lentis et pupillae 0 trials
Ectopia pupillae 0 trials
Ectrodactyly and ectodermal dysplasia without cleft lip/palate 0 trials
Ectrodactyly of lower limbs, congenital heart defect, and micrognathia 0 trials
Ectrodactyly-cleft palate syndrome 0 trials
Edema, familial idiopathic, prepubertal 0 trials
Electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon 0 trials
Emphysema, congenital, with deafness, penoscrotal web, and intellectual disability 0 trials
Emphysema, hereditary pulmonary 0 trials
Enamel hypoplasia, cataracts, and aqueductal stenosis 0 trials
Encephalitis, acute, infection-induced, susceptibility to, 12 0 trials
Encephalomalacia, multilocular 0 trials
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 0 trials
Endocardial fibroelastosis and coarctation of abdominal aorta 0 trials
Endocrine-cerebro-osteodysplasia syndrome 0 trials
Endothelial dystrophy, congenital hereditary, with nail hypoplasia 0 trials
Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency 0 trials
Enuresis, nocturnal, 1 0 trials
Epidermoid cysts 0 trials
Epidermolysis bullosa with congenital localized absence of skin and deformity of nails 0 trials
Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase 0 trials
Epidermolysis bullosa with diaphragmatic hernia 0 trials
Epilepsy, partial, with pericentral spikes 0 trials
Epilepsy, photogenic, with spastic diplegia and intellectual disability 0 trials
Epiphyseal dysplasia of femoral head, myopia, and deafness 0 trials
Epiphyseal dysplasia, Baumann type 0 trials
Episodic muscle weakness, X-linked 0 trials
Epithelial basolateral chloride conductance regulator, rabbit, homolog of 0 trials
Epithelial recurrent erosion dystrophy 0 trials
Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract 0 trials
Erythema nodosum, familial 0 trials
Erythema of acral regions 0 trials
Esophageal ring, lower 0 trials
Esophagitis, eosinophilic, 2 0 trials
Estrogen resistance syndrome 0 trials
Ethanolaminosis 0 trials
Exchondrosis of pinna, posterior 0 trials
Exercise intolerance, riboflavin-responsive 0 trials
Exostoses-anetodermia-brachydactyly type E syndrome 0 trials
Exostosis, Dupuytren subungual 0 trials
Extraoral halitosis due to methanethiol oxidase deficiency 0 trials
Facial abnormalities, kyphoscoliosis, and intellectual disability 0 trials
Facial dysmorphism, cleft palate, hearing loss, and camptodactyly 0 trials
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 trials
Facial dysmorphism, selective tooth agenesis, and choroid calcification 0 trials
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0 trials
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0 trials
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0 trials
Facial paresis, hereditary congenital, 3 0 trials
Facial spasm 0 trials
Faciocardiomelic syndrome 0 trials
Faciothoracogenital syndrome 0 trials
Factor 9 and Factor XI, combined deficiency of 0 trials
Factor VIII and Factor IX, combined deficiency of 0 trials
Factors VIII, IX and XI, combined deficiency of 0 trials
Familial caudal dysgenesis 0 trials Sub-types →
Familial cavitary optic disk anomaly 0 trials
Familial cervical artery dissection 0 trials
Familial gestational hyperthyroidism 0 trials
Familial glucocorticoid deficiency 0 trials Sub-types →
Familial hyperthyroidism due to mutations in TSH receptor 0 trials
Familial lipochrome histiocytosis 0 trials
Familial monosomy 7 syndrome 0 trials Sub-types →
Familial parathyroid adenoma 0 trials
Familial partial paralysis 0 trials
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0 trials
Familial supernumerary nipples 0 trials
Familial visceral myopathy 0 trials Sub-types →
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0 trials
Fever, familial lifelong persistent 0 trials
Fibromatosis, gingival, with hypertrichosis and intellectual disability 0 trials
Fibromuscular dysplasia, multifocal 0 trials
Fibrosclerosis, multifocal 0 trials
Fibrosis, neurodegeneration, and cerebral angiomatosis 0 trials
Fibula, recurrent dislocation of head of 0 trials
Flushing of ears and somnolence 0 trials
Focal epithelial hyperplasia 0 trials
Focal epithelial hyperplasia of the oral mucosa 0 trials
Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0 trials
Follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts 0 trials
Forsythe-wakeling syndrome 0 trials
Fragile site 10Q23 0 trials
Frontoocular syndrome 0 trials
Fructose and galactose intolerance 0 trials
Fucosidase regulator 0 trials
Fucosyltransferase 6 deficiency 0 trials
Fused mandibular incisors 0 trials
Gamma-A-globulin, defect in assembly of 0 trials
Gastric mucosal hypertrophy 0 trials
Gastric volvulus, intrathoracic 0 trials
Gelatinous drop-like corneal dystrophy 0 trials
Genitourinary and/or brain malformation syndrome 0 trials
Giant neutrophil leukocytes 0 trials
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 0 trials
Global developmental delay with speech and behavioral abnormalities 0 trials
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 trials
Global developmental delay, progressive ataxia, and elevated glutamine 0 trials
Globulin anomaly involving beta (2A)-globulin 0 trials
Glomuvenous malformation 0 trials
Glucocorticoid therapy, response to 0 trials
Glucose-6-phosphate dehydrogenase-like 0 trials
Glutamic acid decarboxylase, brain, membrane form 0 trials
Glutamyl ribose-5-phosphate storage disease 0 trials
Glutathione transferase activity toward trans-stilbene oxide 0 trials
Gluteal muscles, absence of 0 trials
Glycosylphosphatidylinositol biosynthesis defect 21 0 trials
Gonadal agenesis 0 trials
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0 trials
Granddad syndrome 0 trials
Grange syndrome 0 trials
Granulocytopenia with immunoglobulin abnormality 0 trials
Granulomas, congenital cerebral 0 trials
Granulosis rubra nasi 0 trials
Growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia 0 trials
Growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy 0 trials
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0 trials
Growth retardation-mild developmental delay-chronic hepatitis syndrome 0 trials
Guanylate cyclase 2E 0 trials
Guanylate kinase 3 0 trials
Hairy ears, Y-linked 0 trials
Hairy nose tip 0 trials
Hairy palms and soles 0 trials
Hamartoma, Precalcaneal congenital fibrolipomatous 0 trials
Hand clasping pattern 0 trials
Headache associated with sexual activity 0 trials
Hearing loss, noise-induced, susceptibility to 0 trials
Heart and brain malformation syndrome 0 trials
Heart-hand syndrome 0 trials Sub-types →
Hemangiomatosis, cutaneous, with associated features 0 trials
Hemifacial myohyperplasia 0 trials
Hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain 0 trials
Hemolytic poikilocytic anemia due to reduced ankyrin binding sites 0 trials
Hemopoietic proliferation 0 trials
Hepatic adenomas, familial 0 trials
Hepatic veno-occlusive disease-immunodeficiency syndrome 0 trials
Hepatorenocardiac degenerative fibrosis 0 trials
Hereditary fallopian tube carcinoma 0 trials
Hereditary hyperferritinemia with congenital cataracts 0 trials
Hereditary hypotrichosis with recurrent skin vesicles 0 trials
Hereditary neuro-ophthalmological disease 0 trials
Hereditary neuroendocrine tumor of small intestine 0 trials
Hereditary neutrophilia 0 trials
Hereditary sensory and autonomic neuropathy with deafness and global delay 0 trials
Heterochromia iridis 0 trials
High myopia-sensorineural deafness syndrome 0 trials
Histiocytic dermatoarthritis 0 trials
Holoprosencephaly, recurrent infections, and monocytosis 0 trials
Humero-radio-ulnar synostosis 0 trials Sub-types →
Humerofemoral hypoplasia with radiotibial ray deficiency 0 trials
Humeroradial synostosis 0 trials Sub-types →
Humerus trochlea aplasia 0 trials
Hyaluronan metabolism, defect 1N 0 trials
Hydrocephalus, congenital communicating, 1 0 trials
Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 0 trials
Hydroxyacyl glutathione hydrolase deficiency 0 trials
Hydroxyprolinemia 0 trials
Hymen, imperforate 0 trials
Hyperbiliverdinemia 0 trials
Hypercalciuria, absorptive, 2 0 trials
Hyperglycinuria 0 trials
Hyperheparinemia 0 trials
Hyperimmunoglobulin G1(A1) syndrome 0 trials
Hyperleucine-Isoleucinemia 0 trials
Hyperlipoproteinemia, type II, and deafness 0 trials
Hyperlysinuria with hyperammonemia 0 trials
Hypermetabolism due to defect in mitochondria 0 trials
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 0 trials
Hyperopia, high 0 trials
Hyperostosis cranialis interna 0 trials
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria 0 trials
Hyperphosphatemia, polyuria, and seizures 0 trials
Hyperpigmentation of Fuldauer and Kuijpers 0 trials
Hyperproglucagonemia 0 trials
Hyperproinsulinemia 0 trials
Hypersecretion of adrenal androgens, familial 0 trials
Hypersulfaturia 0 trials
Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes 0 trials
Hypertelorism and tetralogy of fallot 0 trials
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 0 trials
Hyperthermia, cutaneous, with headaches and nausea 0 trials
Hyperthyroxinemia, dystransthyretinemic 0 trials
Hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency 0 trials
Hyperthyroxinemia, familial dysalbuminemic 0 trials
Hypertrophia musculorum vera 0 trials
Hypertrophic neuropathy and cataract 0 trials
Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase 0 trials
Hypoglycemia, leucine-induced 0 trials
Hypogonadism with low-grade mental deficiency and microcephaly 0 trials
Hypohidrosis with abnormal palmar dermal Ridges 0 trials
Hypoinsulinemic hypoglycemia and body hemihypertrophy 0 trials
Hypokalemic alkalosis, familial, with specific renal tubulopathy 0 trials
Hypokalemic tubulopathy and deafness 0 trials
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 0 trials
Hypophosphatemia, renal, with intracerebral calcifications 0 trials
Hypophosphatemic bone disease 0 trials
Hypophosphatemic rickets and hyperparathyroidism 0 trials
Hypopigmentation, organomegaly, and delayed myelination and development 0 trials
Hypopituitarism, congenital, with central diabetes insipidus 0 trials
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0 trials
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 0 trials
Hypotaurinemic retinal degeneration and cardiomyopathy 0 trials
Hypotonia, ataxia, and delayed development syndrome 0 trials
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0 trials
Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 0 trials
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0 trials
Hypotonia, seizures, and precocious puberty 0 trials
Hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 0 trials
Hypoxanthine guanine phosphoribosyltransferase suppressor 0 trials
Ichthyosis and male hypogonadism 0 trials
Ichthyosis congenita with biliary atresia 0 trials
Ichthyosis, split hairs, and amino aciduria 0 trials
Ichthyosis-cheek-eyebrow syndrome 0 trials
Ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin 0 trials
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0 trials
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 0 trials
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency 0 trials
Immune dysregulation, autoimmunity, and autoinflammation 0 trials
Immune dysregulation, neurodevelopmental defects, and colitis 0 trials
Immunodeficiency 28 0 trials
Immunodeficiency 37 0 trials Sub-types →
Immunodeficiency 39 0 trials
Immunodeficiency 47 0 trials
Immunodeficiency with defective T-cell response to interleukin 1 0 trials
Immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein 0 trials
Immunodeficiency, developmental delay, and hypohomocysteinemia 0 trials
Immunoglobulin M, level of 0 trials
Immunoglobulin d level in plasma, low 0 trials
Imperforate oropharynx-costo vetebral anomalies syndrome 0 trials
Imprinting gene related to retinoblastoma 0 trials
Incisors, lower central, absence of 0 trials
Incisors, rotation of upper central 0 trials
Incisors, shovel-shaped 0 trials
Indolylacroyl glycinuria with intellectual disability 0 trials
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 0 trials
Inflammatory bowel disease, immunodeficiency, and encephalopathy 0 trials
Inherited hypertrophic pyloric stenosis 0 trials Sub-types →
Inherited isolated nail anomaly 0 trials Sub-types →
Inherited oocyte maturation defect 0 trials Sub-types →
Inosine phosphorylase deficiency, immune defect due to 0 trials
Insensitivity to pain with hyperplastic Myelinopathy 0 trials
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 trials
Intellectual developmental disorder with autism and dysmorphic facies 0 trials
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 trials
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 trials
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 trials
Intellectual developmental disorder with hypertelorism and distinctive facies 0 trials
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 trials
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 trials
Intellectual developmental disorder with impaired language and dysmorphic facies 0 trials
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 0 trials
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0 trials
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0 trials
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 trials
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 trials
Intellectual developmental disorder with or without peripheral neuropathy 0 trials
Intellectual developmental disorder with paroxysmal dyskinesia or seizures 0 trials
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 trials
Intellectual developmental disorder with seizures and dysmorphic facies 0 trials
Intellectual developmental disorder with seizures and language delay 0 trials
Intellectual developmental disorder with short stature and behavioral abnormalities 0 trials
Intellectual developmental disorder with short stature and variable skeletal anomalies 0 trials
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0 trials
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 0 trials
Intellectual developmental disorder, autosomal dominant 77 0 trials
Intellectual developmental disorder, autosomal recessive 84 0 trials
Intellectual disability and myopathy syndrome 0 trials
Intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature 0 trials
Intellectual disability, FRA12A type 0 trials
Intellectual disability, anterior maxillary protrusion, and strabismus 0 trials
Intellectual disability, keratoconus, febrile seizures, and sinoatrial block 0 trials
Intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism 0 trials
Intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration 0 trials
Intellectual disability, short stature, facial anomalies, and joint dislocations 0 trials
Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
Intellectual disability-strabismus syndrome 0 trials
Interferon antiviral depressor 0 trials
Internal carotid arteries, hypoplasia of 0 trials
Internal carotid artery, spontaneous dissection of 0 trials
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0 trials
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked 0 trials
Iridogoniodysgenesis and skeletal anomalies 0 trials
Iris pattern 0 trials
Iris pigment epithelium anomalies 0 trials
Iris pigment layer, cleavage of 0 trials
Ischio-vertebral syndrome 0 trials
Isolated aniridia 0 trials Sub-types →
Isolated cryptophthalmia 0 trials Sub-types →
Isolated hyperferritinemia 0 trials
Isolated neonatal sclerosing cholangitis 0 trials
Isolated right ventricular hypoplasia 0 trials
Isoproterenol-mediated vasodilatation 0 trials
Isovaleric acid, inability to smell 0 trials
Jaundice, familial obstructive, of infancy 0 trials Sub-types →
Jejunal atresia with renal adysplasia 0 trials
Joint contractures, osteochondromas, and B-cell lymphoma 0 trials
Kallikrein, decreased urinary activity of 0 trials
Keloid formation 0 trials
Keratitis fugax hereditaria 0 trials
Keratoconus and congenital hip dysplasia 0 trials
Keratoconus posticus circumscriptus 0 trials
Keratoderma hereditarium mutilans 0 trials
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 0 trials
Keratosis, familial actinic 0 trials
Knuckle pads 0 trials
Labia minora, incomplete adhesion of 0 trials
Lactic acidosis, chronic adult form 0 trials
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 0 trials
Laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy 0 trials
Laryngeal atresia, encephalocele, and limb deformities 0 trials
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities 0 trials
Lattice degeneration of retina leading to retinal detachment 0 trials
Leg ulcers, familial, of juvenile onset 0 trials
Lentiginosis, centrofacial neurodysraphic 0 trials
Lessel-kubisch syndrome 0 trials
Lethal faciocardiomelic dysplasia 0 trials
Lethal polymalformative syndrome, Boissel type 0 trials
Lethal recessive chondrodysplasia 0 trials
Leukemia, acute myelocytic, with polyposis coli and colon cancer 0 trials
Leukocyte nuclear appendages, hereditary prevalence of 0 trials
Leukodystrophy and acquired microcephaly with or without dystonia; 0 trials
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 0 trials
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema 0 trials
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 trials
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0 trials
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 trials
Limb transversal defect-cardiac anomaly syndrome 0 trials
Lip, hamartomatous 0 trials
Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 0 trials
Lipoprotein types--Lt system 0 trials
Lipoprotein, variant of beta 0 trials
Lissencephaly, familial, with cleft palate and cerebellar hypoplasia 0 trials
Lithium transport 0 trials
Liver disease, severe congenital 0 trials
Liver fibrocystic disease and polydactyly 0 trials
Long chain fatty acids, defect in transport of 0 trials
Low density lipoprotein, variation in molecular weight of 0 trials
Lung disease, immunodeficiency, and chromosome breakage syndrome; 0 trials
Lymphedema-posterior choanal atresia syndrome 0 trials
Lymphoid system deterioration, progressive 0 trials
Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis 0 trials
Lysine malabsorption syndrome 0 trials
Macrocephaly, acquired, with impaired intellectual development 0 trials
Macrocephaly, benign familial 0 trials
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 trials Sub-types →
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 trials
Macrocephaly-developmental delay syndrome 0 trials
Macrocytosis, familial 0 trials
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 0 trials
Macrosomia adiposa congenita 0 trials
Magnesium, elevated red cell 0 trials
Maleylacetoacetate isomerase deficiency 0 trials
Malocclusion and short stature 0 trials
Mammary-digital-nail syndrome 0 trials
Mandibulofacial dysostosis syndrome, Bauru type 0 trials
Mandibulofacial dysostosis with alopecia 0 trials
Mandibulofacial dysostosis with mental deficiency 0 trials
Mandibulofacial dysostosis with ptosis, autosomal dominant 0 trials
Mannose 6-phosphate receptor recognition defect, Lebanese type 0 trials
Marfanoid habitus with situs inversus 0 trials
Marfanoid hypermobility syndrome 0 trials
Maxillofacial dysostosis 0 trials
Mediosternal depigmentation line 0 trials
Medium chain 3-ketoacyl-Coa thiolase deficiency 0 trials
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 trials
Megabladder, congenital 0 trials
Megacystis-microcolon-intestinal hypoperistalsis syndrome 0 trials Sub-types →
Megaepiphyseal dwarfism 0 trials
Megalencephaly with dysmyelination 0 trials
Megalencephaly-polydactyly syndrome 0 trials
Megalocornea 0 trials Sub-types →
Melanoma tumor antigen Gp90 0 trials
Menstrual cycle-dependent periodic fever 0 trials
Mental and growth retardation with amblyopia 0 trials
Mesoaxial hexadactyly and cardiac malformation 0 trials
Mesomelic dwarfism of hypoplastic tibia and radius type 0 trials
Mesomelic dysplasia, camera type 0 trials
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 0 trials
Metachondromatosis 0 trials
Metachromasia of fibroblasts 0 trials
Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands 0 trials
Metaphyseal chondrodysplasia, Pena type 0 trials
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 0 trials
Metaphyseal dysplasia, anetoderma, and optic atrophy 0 trials
Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia 0 trials
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth 0 trials
Metatarsus varus, type 1 0 trials
Methionine malabsorption syndrome 0 trials
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 0 trials
Microcephaly, corpus callosum dysgenesis, and cleft lip/palate 0 trials
Microcephaly, developmental delay, and brittle hair syndrome 0 trials
Microcephaly, epilepsy, and diabetes syndrome 0 trials Sub-types →
Microcephaly, facial abnormalities, micromelia, and intellectual disability 0 trials
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 trials
Microcephaly, growth deficiency, seizures, and brain malformations 0 trials
Microcephaly, growth restriction and increased sister chromatid exchange 0 trials Sub-types →
Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 0 trials
Microcephaly, macrotia, and intellectual disability 0 trials
Microcephaly, retinitis pigmentosa, and sutural cataract 0 trials
Microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects 0 trials
Microcephaly, short stature, and impaired glucose metabolism 0 trials Sub-types →
Microcephaly, short stature, and limb abnormalities 0 trials
Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
Microcephaly-capillary malformation syndrome 0 trials
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 0 trials
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 trials
Microcephaly-micromelia syndrome 0 trials
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 trials
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 0 trials
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 0 trials
Microphthalmia with cyst, bilateral facial clefts, and limb anomalies 0 trials
Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies 0 trials
Microphthalmia, isolated, with corectopia 0 trials
Microspherophakia with hernia 0 trials
Microspherophakia-metaphyseal dysplasia syndrome 0 trials
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 trials
Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 0 trials
Midline malformations, multiple, with limb abnormalities and hypopituitarism 0 trials
Milia, multiple eruptive 0 trials
Mitochondrial complex 1 deficiency, nuclear type 35 0 trials
Mitochondrial import-stimulating factor 0 trials
Mitochondrial intermembrane space protein Tim12, yeast, homolog of 0 trials
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 trials
Monosodium glutamate sensitivity 0 trials
Mucocutaneous ulceration, chronic 0 trials
Mucus inspissation of respiratory tract 0 trials
Mullerian aplasia and hyperandrogenism 0 trials
Multiple congenital anomalies-hypotonia-seizures syndrome 0 trials Sub-types →
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0 trials
Multiple exostoses with spastic tetraparesis 0 trials
Multiple fibroadenoma of the breast 0 trials
Multiple synostoses syndrome 0 trials Sub-types →
Muscle cramps, familial 0 trials
Muscular atrophy, malignant neurogenic 0 trials
Muscular dystrophy, adult-onset, with leukoencephalopathy 0 trials
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0 trials
Muscular dystrophy, congenital, with cerebellar atrophy 0 trials
Muscular dystrophy, congenital, with or without seizures 0 trials
Muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers 0 trials
Muscular hypoplasia, congenital universal, of Krabbe 0 trials
Musk, inability to smell 0 trials
Myelinated optic nerve fibers 0 trials
Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay 0 trials
Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 0 trials
Myeloid tumor suppressor 0 trials
Myelolymphatic insufficiency 0 trials
Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders 0 trials
Myopathy due to malate-aspartate shuttle defect 0 trials
Myopathy with giant abnormal mitochondria 0 trials
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 0 trials
Myopathy with storage of glycoproteins and Glycosaminoglycans 0 trials
Myopathy, congenital, with excess of muscle spindles 0 trials
Myopathy, granulovacuolar lobular, with electrical myotonia 0 trials
Nanophthalmia 0 trials Sub-types →
Nasal bones, absence of 0 trials
Nasal groove, familial transverse 0 trials
Nasal hyperpigmentation, familial transverse 0 trials
Nephropathy - deafness - hyperparathyroidism syndrome 0 trials
Nephropathy, chronic tubulointerstitial 0 trials
Nephropathy, progressive, with deafness 0 trials
Neurocardiofaciodigital syndrome 0 trials
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 trials
Neurodevelopmental, jaw, eye, and digital syndrome 0 trials
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 trials
Neuroectodermal melanolysosomal disease 0 trials
Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 0 trials
Neurofacioskeletal syndrome with or without renal agenesis 0 trials
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome 0 trials
Neurologic disease, infantile multisystem, with osseous fragility 0 trials
Neuromuscular disease and ocular or auditory anomalies with or without seizures 0 trials
Neurooculocardiogenitourinary syndrome 0 trials
Neurooculorenal syndrome 0 trials
Neuropathy, congenital, with arthrogryposis multiplex 0 trials
Neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive 0 trials
Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia 0 trials
Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine 0 trials
Nevus anemicus 0 trials
Nevus flammeus of nape of neck 0 trials
Nipples inverted 0 trials
Noduli Cutanei, multiple, with urinary tract abnormalities 0 trials
Nondisjunction 0 trials
Nuclear ribonucleic acid 0 trials
Obesity and hypopigmentation 0 trials
Obesity, hyperphagia, and developmental delay 0 trials
Occipital hair, white lock of 0 trials
Ocular myopathy with curare sensitivity 0 trials
Ocular pterygium-digital keloid dysplasia syndrome 0 trials
Oculocerebrofacial syndrome, Kaufman type 0 trials
Oculogastrointestinal-neurodevelopmental syndrome 0 trials
Oculomaxillofacial dysostosis 0 trials Sub-types →
Oculomotor-abducens synkinesis 0 trials
Oculopharyngeal myopathy with leukoencephalopathy 1 0 trials
Oculorenocerebellar syndrome 0 trials
Oculotrichoanal syndrome 0 trials
Oculovertebral syndrome 0 trials
Odontoid hypoplasia 0 trials
Oligodontia-cancer predisposition syndrome 0 trials
Olivopontocerebellar atrophy II, autosomal recessive 0 trials
Omphalocele, X-linked 0 trials
Omphalocele, autosomal 0 trials
Omphalocele, diaphragmatic hernia, and radial ray defects 0 trials
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 0 trials
Onychogryposis, pedal, with keratosis plantaris and coarse hair 0 trials
Ophthalmomandibulomelic dysplasia 0 trials
Ophthalmoplegia totalis with ptosis and miosis 0 trials
Ophthalmoplegia, external, and myopia 0 trials
Ophthalmoplegia, external, with rib and vertebral anomalies 0 trials
Ophthalmoplegia, familial static 0 trials
Ophthalmoplegia, familial total, with iris transillumination 0 trials
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria 0 trials
Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 0 trials
Optic atrophy--spastic paraplegia syndrome 0 trials
Oral sensibility, disturbance of 0 trials
Orofaciodigital syndrome 0 trials Sub-types →
Oromandibular-limb hypogenesis syndrome 0 trials Sub-types →
Orthostatic hypotensive disorder, Streeten type 0 trials
Ossicular malformations, familial 0 trials
Ossified ear cartilages 0 trials
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits 0 trials
Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension 0 trials
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0 trials
Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski 0 trials
Osteoma of cranial vault, familial 0 trials
Osteoma of middle ear 0 trials
Osteootohepatoenteric syndrome 0 trials
Osteoporosis, childhood- or juvenile-onset, with developmental delay 0 trials
Osteoporosis-oculocutaneous hypopigmentation syndrome 0 trials
Osteosclerosis with ichthyosis and fractures 0 trials
Osteosclerotic chondrodysplasia, lethal, with intracellular inclusions 0 trials
Otofaciocervical syndrome 0 trials Sub-types →
Otofacioosseous-gonadal syndrome 0 trials
Otoonychoperoneal syndrome 0 trials
Ovalocytosis, hereditary hemolytic, with defective erythropoiesis 0 trials
Ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis 0 trials
Pachydermodactyly, familial 0 trials
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0 trials
Palant cleft palate syndrome 0 trials
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 trials
Palmaris longus muscle, absence of 0 trials
Pancreatic beta cell agenesis with neonatal diabetes mellitus 0 trials
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 trials
Pancreatic lymphoma, familial 0 trials
Pancreatitis, sclerosing cholangitis, and sicca complex 0 trials
Pancytopenia and occlusive vascular disease 0 trials
Papillomatosis, florid, of nipple 0 trials
Parotid salivary glands, polycystic dysgenetic disease of 0 trials
Parotitis, juvenile recurrent 0 trials
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 0 trials
Patella aplasia/hypoplasia 0 trials Sub-types →
Patent ductus venosus 0 trials
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0 trials
Pellagra-like syndrome 0 trials
Pelvic lipomatosis with crossed renal ectopia 0 trials
Periodic fever, immunodeficiency, and thrombocytopenia syndrome 0 trials
Peripapillary atrophy, beta type 0 trials
Peripheral cone dystrophy 0 trials
Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain 0 trials
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0 trials
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0 trials
Peroneal nerve, accessory deep 0 trials
Peroneus tertius muscle, absence of 0 trials
Peroxidase, salivary 0 trials
Phagocytosis, plasma-related defect 1N 0 trials
Phenformin 4-hydroxylation 0 trials
Pheochromocytoma-islet cell tumor syndrome 0 trials
Phlebectasia of lips 0 trials
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 0 trials
Phosphatase, acid, of tissues 0 trials
Phosphoglucomutase 4 0 trials
Phosphoglycoprotein 1 0 trials
Phosphohydroxylysinuria 0 trials
Phosphoribosylaminoimidazole carboxylase deficiency 0 trials
Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction 0 trials
Pigmented purpuric eruption 0 trials
Pituitary dwarfism with large sella turcica 0 trials
Plasma clot retraction factor, deficiency of 0 trials
Plasma fibronectin deficiency 0 trials
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0 trials
Platelet adenylate cyclase activity 0 trials
Platelet disorder, undefined 0 trials
Platelet factor 3 deficiency 0 trials
Platelet prostacyclin receptor defect 0 trials
Platelet responsiveness to adrenaline, depressed 0 trials
Platelet signal processing defect 0 trials
Platelet-activating factor acetylhydrolase deficiency 0 trials
Pleoconial myopathy with salt craving 0 trials
Polycystic bone disease 0 trials
Polycystic kidney, cataract, and congenital blindness 0 trials
Polydactyly-macrocephaly syndrome 0 trials
Polyhydramnios, chronic idiopathic 0 trials
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0 trials
Polymyoclonus, infantile 0 trials
Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive 0 trials
Polyposis of gastric fundus without polyposis coli 0 trials
Polyposis, intestinal, scattered and discrete 0 trials
Polyposis, intestinal, with multiple exostoses 0 trials
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 0 trials
Polysaccharide, storage of unusual 0 trials
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 trials Sub-types →
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 trials
Postaxial tetramelic oligodactyly 0 trials
Posterior column ataxia 0 trials
Preauricular fistulae, congenital 0 trials
Preauricular tag, isolated, autosomal dominant, 1 0 trials
Premature chromatid separation trait 0 trials
Presenile dementia, Kraepelin type 0 trials
Priapism, familial idiopathic 0 trials
Primary hypertrophic osteoarthropathy 0 trials Sub-types →
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 0 trials
Primary intraosseous venous malformation 0 trials
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome 0 trials
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 trials
Progressive non-infectious anterior vertebral fusion 0 trials
Prolactin deficiency with obesity and enlarged testes 0 trials
Pronation-supination of the forearm, impairment of 0 trials
Properdin deficiency, X-linked 0 trials
Prostate cancer aggressiveness quantitative trait locus on chromosome 19 0 trials
Protein Z deficiency 0 trials
Proteinuria, chronic benign 0 trials
Proteolytic capacity of plasma 0 trials
Protocadherin 3 0 trials
Prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness 0 trials
Pruritus, hereditary localized 0 trials
Pseudoacromegaly with severe insulin resistance 0 trials
Pseudoarthrogryposis 0 trials
Pseudohyperaldosteronism type 2 0 trials
Pseudomonilethrix 0 trials
Pseudoxanthoma elasticum, forme fruste 0 trials
Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 trials
Pterygium colli, isolated 0 trials
Pubic bone dysplasia 0 trials
Pulmonary alveolar microlithiasis 0 trials
Pulmonary alveolar proteinosis with hypogammaglobulinemia 0 trials
Pulmonary bullae causing pneumothorax 0 trials
Pulmonary venoocclusive disease 0 trials Sub-types →
Pulmonic stenosis and congenital nephrosis 0 trials
Pulmonic stenosis and deafness 0 trials
Pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 0 trials
Pupillary membrane, persistence of 0 trials
Purpura simplex 0 trials
Pyloric atresia 0 trials
Radial deficiency-tibial hypoplasia syndrome 0 trials
Radial heads, posterior dislocation of 0 trials
Radial ray deficiency, X-linked 0 trials
Radiation sensitivity of natural killer activity 0 trials
Radiculoneuropathy, fatal neonatal 0 trials
Radio-renal syndrome 0 trials
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 0 trials
Radius, aplasia of, with cleft lip/palate 0 trials
Raindrop hypopigmentation 0 trials
Recombinant 8 syndrome 0 trials
Recurrent infections associated with rare immunoglobulin isotypes deficiency 0 trials
Red cell permeability defect 0 trials
Red cell phospholipid defect with hemolysis 0 trials
Red skin pigment anomaly of new guinea 0 trials
Renal and mullerian duct hypoplasia 0 trials
Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies 0 trials
Renal-hepatic-pancreatic dysplasia 0 trials Sub-types →
Respiratory infections, recurrent, and failure to thrive with or without diarrhea 0 trials
Respiratory papillomatosis, juvenile recurrent, congenital 0 trials
Respiratory underresponsiveness to hypoxia and hypercapnia 0 trials
Restrictive dermopathy 0 trials Sub-types →
Reticuloendotheliosis, X-linked 0 trials
Retinal degeneration and epilepsy 0 trials
Retinal dystrophy and microvillus inclusion disease 0 trials
Retinal dystrophy with leukodystrophy 0 trials
Retinal dystrophy with or without macular staphyloma 0 trials
Retinal telangiectasia and hypogammaglobulinemia 0 trials
Retinal venous beading 0 trials
Retinitis pigmentosa 89 0 trials
Retinitis pigmentosa and erythrocytic microcytosis 0 trials
Retinitis pigmentosa inversa with deafness 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
Retinopathy, pigmentary, and intellectual disability 0 trials
Rhabdomyosarcoma, embryonal, 2 0 trials
Rhiny 0 trials
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 0 trials
Rhizomelic limb shortening with dysmorphic features 0 trials
Ribbing disease 0 trials
Right pulmonary artery, anomalous origin of, familial 0 trials
Ring dermoid of cornea 0 trials
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 0 trials
Salivary duct calculi 0 trials
Salivary substance, Clostridium botulinum type 0 trials
Sandestig-stefanova syndrome 0 trials
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 0 trials
Sebaceous gland hyperplasia, familial presenile 0 trials
Second metatarsal-metacarpal syndrome 0 trials
Secretory diarrhea, myopathy, and deafness 0 trials
Seizures, early-onset, with neurodegeneration and brain calcifications 0 trials
Sella turcica, bridged 0 trials
Senile plaque formation 0 trials
Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 0 trials
Serpinopathy 0 trials
Setting-Sun phenomenon, familial benign 0 trials
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 trials
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 trials
Sex-linked disease 0 trials
Short stature and Facioauriculothoracic malformations 0 trials
Short stature and microcephaly with genital anomalies 0 trials
Short stature due to GHSR deficiency 0 trials
Short stature due to primary acid-labile subunit deficiency 0 trials
Short stature with nonspecific skeletal abnormalities 0 trials Sub-types →
Short stature, Brussels type 0 trials
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 0 trials
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 0 trials Sub-types →
Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies 0 trials
Short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting 0 trials
Short stature, oligodontia, dysmorphic facies, and motor delay 0 trials
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 trials
Short stature-obesity syndrome 0 trials
Shoulder and thorax deformity-congenital heart disease syndrome 0 trials
Sister chromatid exchange, frequency of 0 trials
Skeletal defects, genital hypoplasia, and intellectual disability 0 trials
Skeletal dysplasia and progressive central nervous system degeneration, lethal 0 trials
Skeletal dysplasia with delayed epiphyseal and carpal bone ossification 0 trials
Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 trials
Skeletal dysplasia, rhizomelic, with retinitis pigmentosa 0 trials
Snijders blok-fisher syndrome 0 trials
Sodium-potassium-ATPase activity of red cell 0 trials
Spastic diplegia and intellectual disability 0 trials
Spastic paraparesis-cataracts-speech delay syndrome 0 trials
Spastic paraparesis-deafness syndrome 0 trials
Spastic paraplegia and Evans syndrome 0 trials
Spastic paraplegia with associated extrapyramidal signs 0 trials
Spastic paraplegia with myoclonic epilepsy 0 trials
Spastic paraplegia, ataxia, and intellectual disability 0 trials
Spastic paraplegia, mitochondrial 0 trials
Spastic paraplegia, optic atrophy, and dementia 0 trials
Spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal 0 trials
Spastic tetraplegia and axial hypotonia, progressive 0 trials
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0 trials
Specific granule deficiency 0 trials Sub-types →
Sperm protamine P4 0 trials
Sperm-specific antigen 1 0 trials
Spinal dysplasia, Anhalt type 0 trials
Spinal muscular atrophy with intellectual disability 0 trials
Spinal muscular atrophy with microcephaly and mental subnormality 0 trials
Spinal muscular atrophy, infantile, James type 0 trials
Spinocerebellar ataxia with rigidity and peripheral neuropathy 0 trials
Spinocerebellar atrophy with pupillary paralysis 0 trials
Splenogonadal fusion-limb defects-micrognathia syndrome 0 trials
Splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells 0 trials
Splenoportal vascular anomalies 0 trials
Split lower lip 0 trials
Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
Split-hand and split-foot with hypodontia 0 trials
Spondylocostal dysostosis-anal and genitourinary malformations syndrome 0 trials
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness 0 trials
Spondylometaphyseal dysplasia with corneal dystrophy 0 trials
Sternum, premature obliteration of sutures of 0 trials
Storm syndrome 0 trials
Streptococcus, group A, severity of infection by 0 trials
Structural brain anomalies with impaired intellectual development and craniosynostosis 0 trials
Structural heart defects and renal anomalies syndrome 0 trials
Subaortic stenosis, membranous 0 trials
Succinic acidemia 0 trials
Sucrosuria, hiatus hernia and intellectual disability 0 trials
Sudden cardiac failure, alcohol-induced 0 trials
Sudden cardiac failure, infantile 0 trials
Sudden infant death-dysgenesis of the testes syndrome 0 trials
Superior transverse scapular ligament, calcification of, familial 0 trials
Supernumerary der(22)t(8;22) syndrome 0 trials
Suppressor of tumorigenicity 3 0 trials
Surface antigen, glycoprotein 75 0 trials
Surface polypeptides, anonymous 0 trials
Symphalangism of toes 0 trials
Symphalangism with multiple anomalies of hands and feet 0 trials
Symphalangism, C. S. Lewis type 0 trials
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch 0 trials
Syndesmodysplasic dwarfism 0 trials
Syndromic multisystem autoimmune disease due to ITCH deficiency 0 trials
Syngnathia multiple anomalies 0 trials
Syngnathia-cleft palate syndrome 0 trials
Synovial chondromatosis, familial, with dwarfism 0 trials
Syringomas, multiple 0 trials
Tall stature-intellectual disability-renal anomalies syndrome 0 trials
Talonavicular coalition 0 trials
Taurodontism, microdontia, and dens invaginatus 0 trials
Tear protein, anodal 0 trials
Teeth present at birth 0 trials
Teeth, fused 0 trials
Teeth, odd shapes of 0 trials
Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 0 trials
Temperature-sensitive lethal mutation 0 trials
Temtamy syndrome 0 trials
Testes, rudimentary 0 trials
Testicular anomalies with or without congenital heart disease 0 trials
Testicular microlithiasis 0 trials
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities 0 trials
Tetraamelia-multiple malformations syndrome 0 trials Sub-types →
Tetralogy of fallot and glaucoma 0 trials
Tetralogy of fallot syndrome, autosomal recessive 0 trials
Tetramelic monodactyly 0 trials
Tetrasomy 18p 0 trials
Thalamic degeneration, symmetric infantile 0 trials
Thickened earlobes-conductive deafness syndrome 0 trials
Thoracic dysostosis, isolated 0 trials
Thrombocytopenia with elevated serum IgA and renal disease 0 trials
Thrombocytopenia, anemia, and myelofibrosis 0 trials
Thrombocytopenia-Robin sequence syndrome 0 trials
Thumb deformity 0 trials
Thumb, distal hyperextensibility of 0 trials
Thumbs, congenital Clasped 0 trials
Thymic aplasia with fetal death 0 trials
Thymoma, familial 0 trials
Thyroid hormone metabolism, abnormal 0 trials Sub-types →
Thyroid hormone plasma membrane transport defect 0 trials
Tibia, absence of, with congenital deafness 0 trials
Tibial aplasia-ectrodactyly syndrome 0 trials Sub-types →
Tibial torsion, bilateral medial 0 trials
Tiglic acidemia 0 trials
Toe, fifth, number of phalanges 1N 0 trials
Toe, misshapen 0 trials
Toe, rotated fifth 0 trials
Toes, relative length of first and second 0 trials
Toes, space between first and second 0 trials
Tongue, pigmented fungiform papillae of 0 trials
Torus palatinus and torus mandibularis 0 trials
Transient infantile hypertriglyceridemia and hepatosteatosis 0 trials
Tremor of intention, ataxia, and lipofuscinosis 0 trials
Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus 0 trials
Trichilemmal cyst 0 trials
Trichoepitheliomas, multiple desmoplastic 0 trials
Trichohepatoneurodevelopmental syndrome 0 trials
Trichoscyphodysplasia 0 trials
Triokinase and FMN cyclase deficiency syndrome 0 trials
Triphalangeal thumb with double phalanges 0 trials
Triphalangeal thumb-polysyndactyly syndrome 0 trials
Trisomy 18-like syndrome 0 trials
Trypsinogen deficiency 0 trials
Tuberculin skin test reactivity, absence of 0 trials
Tubulin, beta 0 trials
Tumor suppressor gene on chromosome 11 0 trials
Turnpenny-fry syndrome 0 trials
Ubiquitin-activating enzyme, Y-linked 0 trials
Ulna hypoplasia-intellectual disability syndrome 0 trials
Ulnar agenesis and endocardial fibroelastosis 0 trials
Ulnar hypoplasia-split foot syndrome 0 trials
Ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 0 trials
Umbilicus, familial flat 0 trials
Uncombable hair syndrome 1 0 trials
Uncombable hair syndrome 2 0 trials
Uncombable hair syndrome 3 0 trials
Unique green phenomenon 0 trials
Ureter, bifid or double 0 trials
Ureterocele 0 trials
Urogenital adysplasia 0 trials
Uveal coloboma-cleft lip and palate-intellectual disability 0 trials
Vacuolar Neuromyopathy 0 trials
Van Bogaert-Hozay syndrome 0 trials
Van Maldergem syndrome 0 trials Sub-types →
Varicella, severe recurrent 0 trials
Vascular helix of umbilical cord 0 trials
Vascular hyalinosis 0 trials
Vasculitis, lymphocytic, cutaneous small vessel 0 trials
Veins, pattern of, on anterior thorax 0 trials
Ventriculomegaly and arthrogryposis 0 trials
Ventriculomegaly with defects of the radius and kidney 0 trials
Ventriculomegaly-cystic kidney disease 0 trials
Venular insufficiency, systemic 0 trials
Vertebral anomalies and variable endocrine and T-cell dysfunction 0 trials
Vertebral hypersegmentation and orofacial anomalies 0 trials
Vertebral hypoplasia with lumbar kyphosis 0 trials
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 trials
Vestibulocochlear dysfunction, progressive 0 trials
Visceral neuropathy, familial 0 trials Sub-types →
Visual impairment and progressive phthisis bulbi 0 trials
Vitamin D-dependent rickets, type 3 0 trials
Vitiligo, progressive, with intellectual disability and urethral duplication 0 trials
Vitreoretinopathy with phalangeal epiphyseal dysplasia 0 trials
Warburg-cinotti syndrome 0 trials
Widow's peak syndrome 0 trials
Woolly hair-skin fragility syndrome 0 trials
Wooly hair, autosomal recessive 3 0 trials
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 0 trials
Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 trials
Xylosidase deficiency 0 trials
Yakut short stature syndrome 0 trials
Zinc deficiency, transient neonatal 0 trials