Path 1 |
experimental factor |
0 |
 |
material property |
0 |
 |
disposition |
0 |
 |
disease |
0 |
 |
genetic disorder |
0 |
 |
17q11.2 microduplication syndrome |
0 |
 |
3MC syndrome + |
0 |
 |
46,XX sex reversal 1 |
0 |
 |
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency |
0 |
 |
46,xx sex reversal 5 |
0 |
 |
7q11.23 microduplication syndrome + |
0 |
 |
ACCES syndrome |
0 |
 |
ACTH-independent macronodular adrenal hyperplasia 1 |
0 |
 |
ACTN3 deficiency |
0 |
 |
AKT3-related overgrowth spectrum + |
0 |
 |
AP-4 deficiency syndrome |
0 |
 |
Abruzzo-Erickson syndrome |
0 |
 |
Adams-Oliver syndrome |
0 |
 |
Al-Gazali syndrome |
0 |
 |
Alazami-Yuan syndrome |
0 |
 |
Alkuraya-Kucinskas syndrome |
0 |
 |
Aortic Coarctation + |
0 |
 |
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome |
0 |
 |
Armfield syndrome |
0 |
 |
Arts syndrome |
0 |
 |
Atelis syndrome + |
0 |
 |
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities |
0 |
 |
Axenfeld-Rieger syndrome + |
0 |
 |
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations |
0 |
 |
BAFopathy + |
0 |
 |
BDV syndrome |
0 |
 |
Bamforth-Lazarus syndrome |
0 |
 |
Baralle-Macken syndrome |
0 |
 |
Basilicata-Akhtar syndrome |
0 |
 |
Beck-Fahrner syndrome |
0 |
 |
Birbeck granule deficiency |
0 |
 |
Boudin-Mortier syndrome |
0 |
 |
Brachymorphism-onychodysplasia-dysphalangism syndrome |
0 |
 |
Braddock-Carey syndrome + |
0 |
 |
Bryant-Li-Bhoj neurodevelopmental syndrome + |
0 |
 |
Buratti-Harel syndrome |
0 |
 |
CDKL5 disorder + |
0 |
 |
CEBALID syndrome |
0 |
 |
CHAND syndrome |
0 |
 |
CLAPO syndrome |
0 |
 |
COL4A1-related disorder + |
0 |
 |
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy + |
0 |
 |
Camptosynpolydactyly, complex |
0 |
 |
Cardiac-urogenital syndrome |
0 |
 |
Carey-Fineman-Ziter syndrome |
0 |
 |
Caroli Disease |
0 |
 |
Catifa syndrome |
0 |
 |
Central precocious puberty + |
0 |
 |
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome |
0 |
 |
Chiari malformation + |
0 |
 |
Chitayat syndrome |
0 |
 |
Chopra-Amiel-Gordon syndrome |
0 |
 |
Christianson syndrome |
0 |
 |
Chromosomal anomaly + |
0 |
 |
Chudley-McCullough syndrome |
0 |
 |
Coffin-Siris syndrome + |
0 |
 |
Cohen-Gibson syndrome |
0 |
 |
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
0 |
 |
Congenital deficiency in alpha-fetoprotein |
0 |
 |
Cornelia de Lange syndrome |
0 |
 |
Coxa Vara |
0 |
 |
Crane-Heise syndrome |
0 |
 |
DEGCAGS syndrome |
0 |
 |
DICER1-related tumor predisposition + |
0 |
 |
DOORS syndrome |
0 |
 |
DeSanto-Shinawi syndrome due to WAC point mutation |
0 |
 |
Delpire-McNeill syndrome |
0 |
 |
Desbuquois dysplasia + |
0 |
 |
Developmental delay with variable intellectual impairment and behavioural abnormalities |
0 |
 |
Disorder of amino acid and other organic acid metabolism + |
0 |
 |
Disorder of biogenic amine metabolism and transport + |
0 |
 |
Disorder of carbohydrate metabolism + |
0 |
 |
Disorder of energy metabolism + |
0 |
 |
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + |
0 |
 |
Disorder of lipid metabolism + |
0 |
 |
Disorder of porphyrin and haem metabolism + |
0 |
 |
Disorder of purine or pyrimidine metabolism + |
0 |
 |
Disorder of vitamin and non-protein cofactor absorption and transport + |
0 |
 |
EDICT syndrome |
0 |
 |
EN1-related dorsoventral syndrome + |
0 |
 |
EPHB4-associated vascular malformation spectrum + |
0 |
 |
Ehlers-Danlos syndrome + |
0 |
 |
Elsahy-Waters syndrome |
0 |
 |
Emanuel syndrome |
0 |
 |
Ewing sarcoma + |
0 |
 |
FRAXF syndrome |
0 |
 |
Faundes-Banka syndrome |
0 |
 |
Floating-Harbor syndrome |
0 |
 |
Fowler syndrome |
0 |
 |
Fuchs' endothelial dystrophy + |
0 |
 |
GATA1-Related X-Linked Cytopenia + |
0 |
 |
GCGR-related hyperglucagonemia |
0 |
 |
GRACILE syndrome |
0 |
 |
Gabriele de Vries syndrome |
0 |
 |
Gamstorp-Wohlfart syndrome |
0 |
 |
Genetic hyperferritinemia without iron overload |
0 |
 |
Goldberg-Shprintzen syndrome |
0 |
 |
Grant syndrome |
0 |
 |
Guttmacher syndrome |
0 |
 |
Hashimoto's thyroiditis |
0 |
 |
Hengel-Maroofian-Schols syndrome |
0 |
 |
Hereditary persistence of alpha-fetoprotein |
0 |
 |
Heyn-Sproul-Jackson syndrome |
0 |
 |
Hirschsprung disease |
0 |
 |
Houge-Janssens syndrome + |
0 |
 |
Huppke-Brendel syndrome |
0 |
 |
Hydatidiform Mole + |
0 |
 |
IVIC syndrome |
0 |
 |
IgE responsiveness, atopic |
0 |
 |
Imagawa-Matsumoto syndrome |
0 |
 |
Inherited cancer-predisposing syndrome + |
0 |
 |
Jaberi-Elahi syndrome |
0 |
 |
Jalili syndrome |
0 |
 |
Jawad syndrome |
0 |
 |
Juberg-Hayward syndrome |
0 |
 |
Kabuki syndrome |
0 |
 |
Karsch-Neugebauer syndrome |
0 |
 |
Kartagener Syndrome |
0 |
 |
Kaya-Barakat-Masson syndrome |
0 |
 |
Keipert syndrome |
0 |
 |
Khan-Khan-Katsanis syndrome |
0 |
 |
Kilquist syndrome |
0 |
 |
Kleefstra syndrome + |
0 |
 |
Klinefelter's syndrome |
0 |
 |
Klippel-Feil syndrome + |
0 |
 |
Kohlschutter-Tonz syndrome-like |
0 |
 |
Koolen-de Vries syndrome + |
0 |
 |
Kury-Isidor syndrome |
0 |
 |
L-ferritin deficiency |
0 |
 |
LTBP2-related ocular dysgenesis + |
0 |
 |
Lessel-Kreienkamp syndrome |
0 |
 |
Leukocyte-Adhesion Deficiency Syndrome |
0 |
 |
Leydig cell hypoplasia, type 1 + |
0 |
 |
Li-Campeau syndrome |
0 |
 |
Li-Ghorbani-Weisz-Hubshman syndrome |
0 |
 |
Liang-Wang syndrome |
0 |
 |
Liberfarb syndrome |
0 |
 |
Lisch epithelial corneal dystrophy |
0 |
 |
Long-Olsen-Distelmaier syndrome |
0 |
 |
Lui-Jee-Baron syndrome |
0 |
 |
Luo-Schoch-Yamamoto syndrome |
0 |
 |
Luscan-Lumish syndrome |
0 |
 |
Lysosomal disease + |
0 |
 |
MIRAGE syndrome |
0 |
 |
MOMO syndrome |
0 |
 |
MORM syndrome |
0 |
 |
Malan overgrowth syndrome |
0 |
 |
Mazabraud syndrome |
0 |
 |
Meacham syndrome |
0 |
 |
Meckel's diverticulum |
0 |
 |
Meesmann corneal dystrophy + |
0 |
 |
Melhem-Fahl syndrome |
0 |
 |
Mendelian encephalopathy + |
0 |
 |
Menke-Hennekam syndrome |
0 |
 |
Mullegama-Klein-Martinez syndrome |
0 |
 |
Mungan syndrome |
0 |
 |
N-acetylaspartate deficiency |
0 |
 |
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction + |
0 |
 |
Nance-Horan syndrome |
0 |
 |
Nizon-Isidor syndrome |
0 |
 |
O'Donnell-Luria-Rodan syndrome |
0 |
 |
Obesity Hypoventilation Syndrome |
0 |
 |
Okt4 epitope deficiency |
0 |
 |
Opitz G/BBB syndrome + |
0 |
 |
Other metabolic disease + |
0 |
 |
PMP22-RAI1 contiguous gene duplication syndrome |
0 |
 |
POLR3A-related disorder + |
0 |
 |
POLR3B-related disorder + |
0 |
 |
Parathyroid Gland Carcinoma |
0 |
 |
Perlman syndrome |
0 |
 |
Peroxisomal beta-oxidation disorder + |
0 |
 |
Phelan-McDermid syndrome |
0 |
 |
Pierre Robin syndrome-faciodigital anomaly syndrome |
0 |
 |
Pilotto syndrome |
0 |
 |
Pitt-Hopkins syndrome |
0 |
 |
Pitt-Hopkins-like syndrome 2 |
0 |
 |
Potocki-Lupski syndrome |
0 |
 |
Primrose syndrome |
0 |
 |
Pseudofolliculitis barbae |
0 |
 |
RECON progeroid syndrome |
0 |
 |
RNU4ATAC spectrum disorder + |
0 |
 |
Rabson-Mendenhall syndrome |
0 |
 |
Radio-Tartaglia syndrome |
0 |
 |
Rajab interstitial lung disease with brain calcifications + |
0 |
 |
Ramon syndrome |
0 |
 |
Rare genetic bone disease + |
0 |
 |
Rare genetic cardiac disease + |
0 |
 |
Rare genetic deafness + |
0 |
 |
Rare genetic developmental defect during embryogenesis + |
0 |
 |
Rare genetic disease with myoclonus as a major feature + |
0 |
 |
Rare genetic endocrine disease + |
0 |
 |
Rare genetic eye disease + |
0 |
 |
Rare genetic female infertility + |
0 |
 |
Rare genetic gastroenterological disease + |
0 |
 |
Rare genetic hematologic disease + |
0 |
 |
Rare genetic hepatic disease + |
0 |
 |
Rare genetic immune disease + |
0 |
 |
Rare genetic male infertility + |
0 |
 |
Rare genetic neurological disorder + |
0 |
 |
Rare genetic odontologic disease + |
0 |
 |
Rare genetic renal disease + |
0 |
 |
Rare genetic respiratory disease + |
0 |
 |
Rare genetic skin disease + |
0 |
 |
Rare genetic systemic or rheumatologic disease + |
0 |
 |
Rare genetic tumor + |
0 |
 |
Rare genetic urogenital disease + |
0 |
 |
Rare genetic vascular disease + |
0 |
 |
Rauch-Steindl syndrome |
0 |
 |
Raynaud disease |
0 |
 |
Reynolds syndrome |
0 |
 |
Robin sequence-oligodactyly syndrome |
0 |
 |
Rombo syndrome |
0 |
 |
Roussy-Levy syndrome |
0 |
 |
SEC61A1 deficiency + |
0 |
 |
STAT3 gain of function |
0 |
 |
Schnyder corneal dystrophy |
0 |
 |
Shashi-Pena syndrome |
0 |
 |
Short stature, Dauber-Argente type |
0 |
 |
Sifrim-Hitz-Weiss syndrome |
0 |
 |
Silver-Russell syndrome + |
0 |
 |
Simpson-Golabi-Behmel syndrome type 2 |
0 |
 |
Skraban-Deardorff syndrome |
0 |
 |
Stuve-Wiedemann syndrome + |
0 |
 |
Suleiman-El-Hattab syndrome |
0 |
 |
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant |
0 |
 |
T-substance anomaly |
0 |
 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
0 |
 |
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations + |
0 |
 |
TRAF3 haploinsufficiency |
0 |
 |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
0 |
 |
Tan-Almurshedi syndrome |
0 |
 |
Teebi hypertelorism syndrome + |
0 |
 |
Tenorio syndrome |
0 |
 |
Tessadori-Van-Haaften neurodevelopmental syndrome + |
0 |
 |
Tolchin-Le Caignec syndrome |
0 |
 |
Upington disease |
0 |
 |
Usmani-Riazuddin syndrome, autosomal dominant |
0 |
 |
Usmani-Riazuddin syndrome, autosomal recessive |
0 |
 |
VACTERL with hydrocephalus + |
0 |
 |
VISS syndrome |
0 |
 |
Vissers-Bodmer syndrome |
0 |
 |
Warburg-Cinotti syndrome |
0 |
 |
Warsaw breakage syndrome |
0 |
 |
Webb-Dattani syndrome |
0 |
 |
White-Kernohan syndrome |
0 |
 |
Wiedemann-Steiner syndrome |
0 |
 |
X inactivation, familial skewed + |
0 |
 |
X-linked complicated corpus callosum dysgenesis |
0 |
 |
X-linked disease + |
0 |
 |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
0 |
 |
XFE progeroid syndrome |
0 |
 |
Yao syndrome |
0 |
 |
Yuksel-Vogel-Bauer syndrome |
0 |
 |
Zaki syndrome |
0 |
 |
Zimmermann-Laband syndrome + |
0 |
 |
ablepharon macrostomia syndrome |
0 |
 |
absence deformity of leg-cataract syndrome |
0 |
 |
absent radius-anogenital anomalies syndrome |
0 |
 |
acetyl-CoA acetyltransferase-2 deficiency |
0 |
 |
acrofacial dysostosis + |
0 |
 |
acroleukopathy, symmetric |
0 |
 |
acroosteolysis-keloid-like lesions-premature aging syndrome |
0 |
 |
adenosine triphosphatase deficiency, anemia due to |
0 |
 |
aganglionosis, total intestinal |
0 |
 |
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
0 |
 |
agnathia-otocephaly complex |
0 |
 |
alcohol sensitivity, acute |
0 |
 |
alopecia - intellectual disability syndrome |
0 |
 |
alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
0 |
 |
alpha-thalassemia-myelodysplastic syndrome |
0 |
 |
alveolar soft part sarcoma + |
0 |
 |
amelogenesis imperfecta + |
0 |
 |
androgen insensitivity syndrome + |
0 |
 |
anemia, hypochromic microcytic with iron overload + |
0 |
 |
angiokeratoma corporis diffusum with arteriovenous fistulas |
0 |
 |
angioosteohypertrophic syndrome |
0 |
 |
anhaptoglobinemia |
0 |
 |
aniridia - intellectual disability syndrome |
0 |
 |
aniridia-absent patella syndrome |
0 |
 |
aniridia-renal agenesis-psychomotor retardation syndrome |
0 |
 |
ankyloglossia |
0 |
 |
anodontia |
0 |
 |
anterior segment dysgenesis + |
0 |
 |
aplasia of lacrimal and salivary glands |
0 |
 |
apparent mineralocorticoid excess syndrome |
0 |
 |
arcus senilis |
0 |
 |
arhinia, choanal atresia, and microphthalmia + |
0 |
 |
ariboflavinosis + |
0 |
 |
arterial calcification of infancy + |
0 |
 |
arteriovenous malformations of the brain |
0 |
 |
arthritis, sacroiliac |
0 |
 |
arthrogryposis multiplex congenita + |
0 |
 |
arthrogryposis, Perthes disease, and upward gaze palsy |
0 |
 |
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
0 |
 |
asthma, nasal polyps, and aspirin intolerance |
0 |
 |
ataxia, intention tremor, and hypotonia syndrome, childhood-onset |
0 |
 |
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability |
0 |
 |
atelosteogenesis + |
0 |
 |
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome |
0 |
 |
atrichia with papular lesions |
0 |
 |
atrioventricular dissociation + |
0 |
 |
autoinflammation with arthritis and dyskeratosis |
0 |
 |
autoinflammation with pulmonary and cutaneous vasculitis |
0 |
 |
autoinflammation, immune dysregulation, and eosinophilia |
0 |
 |
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency |
0 |
 |
autosomal dominant deafness - onychodystrophy syndrome |
0 |
 |
autosomal dominant wooly hair |
0 |
 |
autosomal genetic disease + |
0 |
 |
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
0 |
 |
azoospermia + |
0 |
 |
azoospermia, obstructive, with nephrolithiasis |
0 |
 |
beta-aminoisobutyric acid, urinary excretion of |
0 |
 |
bilateral microtia-deafness-cleft palate syndrome |
0 |
 |
bile acid conjugation defect 1 |
0 |
 |
bile acid malabsorption, primary, 1 |
0 |
 |
biliary, renal, neurologic, and skeletal syndrome |
0 |
 |
bipartite talus |
0 |
 |
bladder diverticulum |
0 |
 |
blepharophimosis - intellectual disability syndrome, SBBYS type |
0 |
 |
blepharophimosis-impaired intellectual development syndrome |
0 |
 |
blistering, acantholytic, of oral and laryngeal mucosa |
0 |
 |
bone marrow failure syndrome + |
0 |
 |
brachycephaly, trichomegaly, and developmental delay |
0 |
 |
brachydactyly + |
0 |
 |
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia |
0 |
 |
branchiootic syndrome |
0 |
 |
bronchiectasis + |
0 |
 |
bullous dystrophy, macular type |
0 |
 |
camptodactyly syndrome, Guadalajara + |
0 |
 |
capillary infantile hemangioma |
0 |
 |
capillary malformation-arteriovenous malformation syndrome + |
0 |
 |
carcinoid syndrome |
0 |
 |
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies |
0 |
 |
cardiac valvular defect + |
0 |
 |
cardiac, facial, and digital anomalies with developmental delay |
0 |
 |
cardioacrofacial dysplasia + |
0 |
 |
cardiofacioneurodevelopmental syndrome |
0 |
 |
cardiogenetic disease + |
0 |
 |
cat-eye syndrome |
0 |
 |
cataract + |
0 |
 |
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis + |
0 |
 |
caudal duplication |
0 |
 |
cavernous hemangiomas of face-supraumbilical midline raphe syndrome |
0 |
 |
celiac disease |
0 |
 |
central areolar choroidal dystrophy + |
0 |
 |
central centrifugal cicatricial alopecia |
0 |
 |
central hypoventilation syndrome, congenital + |
0 |
 |
cerebellar ataxia, brain abnormalities, and cardiac conduction defects |
0 |
 |
cerebellar atrophy, developmental delay, and seizures |
0 |
 |
cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism |
0 |
 |
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
0 |
 |
cerebellar, ocular, craniofacial, and genital syndrome |
0 |
 |
cerebelloparenchymal disorder + |
0 |
 |
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy + |
0 |
 |
cervical spondylosis |
0 |
 |
channelopathy-associated congenital insensitivity to pain, autosomal recessive |
0 |
 |
chitotriosidase deficiency |
0 |
 |
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
0 |
 |
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
0 |
 |
cholestasis-pigmentary retinopathy-cleft palate syndrome |
0 |
 |
chondrodysplasia-pseudohermaphroditism syndrome |
0 |
 |
chorea, childhood-onset, with psychomotor retardation |
0 |
 |
chromosome 15q24 deletion syndrome |
0 |
 |
chromosome 16p12.1 deletion syndrome, 520kb |
0 |
 |
chromosome 1p32-p31 deletion syndrome |
0 |
 |
chromosome-defective micronuclei |
0 |
 |
chronic atrial and intestinal dysrhythmia |
0 |
 |
ciliopathy + |
0 |
 |
cirrhosis, familial + |
0 |
 |
clcn4-related disorder |
0 |
 |
cleft palate, proliferative retinopathy, and developmental delay |
0 |
 |
cleft palate-large ears-small head syndrome |
0 |
 |
cocoon syndrome |
0 |
 |
cognitive impairment with or without cerebellar ataxia |
0 |
 |
coloboma, ocular, autosomal dominant + |
0 |
 |
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
0 |
 |
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
0 |
 |
combined low LDL and fibrinogen |
0 |
 |
combined oxidative phosphorylation deficiency 49 |
0 |
 |
combined oxidative phosphorylation deficiency 50 |
0 |
 |
cone-rod dystrophy and hearing loss |
0 |
 |
cone-rod synaptic disorder syndrome, congenital nonprogressive |
0 |
 |
congenital analbuminemia |
0 |
 |
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay |
0 |
 |
congenital bilateral absence of vas deferens + |
0 |
 |
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome |
0 |
 |
congenital contractures of the limbs and face, hypotonia, and developmental delay |
0 |
 |
congenital diarrhea + |
0 |
 |
congenital enteropathy due to enteropeptidase deficiency |
0 |
 |
congenital heart defects and ectodermal dysplasia |
0 |
 |
congenital heart defects and skeletal malformations syndrome |
0 |
 |
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder |
0 |
 |
congenital heart defects, multiple types, 7 |
0 |
 |
congenital heart malformation + |
0 |
 |
congenital hereditary endothelial dystrophy of cornea |
0 |
 |
congenital hypotonia, epilepsy, developmental delay, and digital anomalies |
0 |
 |
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome |
0 |
 |
congenital pseudoarthrosis of clavicle |
0 |
 |
congenital pseudoarthrosis of the limbs + |
0 |
 |
congenital short bowel syndrome, autosomal recessive |
0 |
 |
congenital stromal corneal dystrophy |
0 |
 |
congenital vertical talus + |
0 |
 |
contractures, pterygia, and variable skeletal fusions syndrome + |
0 |
 |
cornea plana + |
0 |
 |
corneal dystrophy, punctiform and polychromatic pre-descemet |
0 |
 |
corneal dystrophy-perceptive deafness syndrome |
0 |
 |
corpus callosum agenesis-abnormal genitalia syndrome |
0 |
 |
cortical dysplasia-focal epilepsy syndrome |
0 |
 |
corticosteroid-binding globulin deficiency |
0 |
 |
corticosterone methyloxidase type 2 deficiency |
0 |
 |
craniofacial anomalies and anterior segment dysgenesis syndrome |
0 |
 |
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome |
0 |
 |
craniofacial dysplasia - osteopenia syndrome |
0 |
 |
craniofacial-deafness-hand syndrome |
0 |
 |
craniolenticulosutural dysplasia |
0 |
 |
craniometadiaphyseal osteosclerosis with hip dysplasia |
0 |
 |
craniosynostosis + |
0 |
 |
cryptorchidism |
0 |
 |
cyanosis, transient neonatal + |
0 |
 |
cyclic hematopoiesis |
0 |
 |
cystic disease of lung |
0 |
 |
cystic fibrosis-gastritis-megaloblastic anemia syndrome |
0 |
 |
de Sanctis-Cacchione syndrome |
0 |
 |
deafness with labyrinthine aplasia, microtia, and microdontia |
0 |
 |
deafness, congenital heart defects, and posterior embryotoxon |
0 |
 |
deafness, congenital, and adult-onset progressive leukoencephalopathy |
0 |
 |
deafness-ear malformation-facial palsy syndrome |
0 |
 |
deafness-epiphyseal dysplasia-short stature syndrome |
0 |
 |
deafness-small bowel diverticulosis-neuropathy syndrome |
0 |
 |
deafness-vitiligo-achalasia syndrome |
0 |
 |
deeah syndrome |
0 |
 |
delayed puberty, self-limited |
0 |
 |
dentin dysplasia type I + |
0 |
 |
dentin dysplasia type II |
0 |
 |
dentin dysplasia-sclerotic bones syndrome |
0 |
 |
dentinogenesis imperfecta type 2 + |
0 |
 |
dentinogenesis imperfecta type 3 |
0 |
 |
developmental delay with dysmorphic facies and dental anomalies |
0 |
 |
developmental delay with hypotonia, myopathy, and brain abnormalities |
0 |
 |
developmental delay with or without dysmorphic facies and autism |
0 |
 |
developmental delay with or without intellectual impairment or behavioral abnormalities |
0 |
 |
developmental delay with short stature, dysmorphic facial features, and sparse hair + |
0 |
 |
developmental delay with variable intellectual disability and dysmorphic facies |
0 |
 |
developmental delay with variable intellectual impairment and behavioral abnormalities |
0 |
 |
developmental delay, behavioral abnormalities, and neuropsychiatric disorders |
0 |
 |
developmental delay, hypotonia, and impaired language |
0 |
 |
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy |
0 |
 |
developmental delay, impaired speech, and behavioral abnormalities |
0 |
 |
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures |
0 |
 |
developmental delay, language impairment, and ocular abnormalities |
0 |
 |
developmental dysplasia of the hip |
0 |
 |
diabetes, deafness, developmental delay, and short stature syndrome |
0 |
 |
diaphragmatic eventration |
0 |
 |
diencephalic-mesencephalic junction dysplasia |
0 |
 |
diffuse idiopathic skeletal hyperostosis |
0 |
 |
disabling pansclerotic morphea of childhood |
0 |
 |
distal arthrogryposis + |
0 |
 |
distal monosomy 10p |
0 |
 |
distal symphalangism |
0 |
 |
dwarfism, intellectual disability, and eye abnormality |
0 |
 |
dyskinesia with orofacial involvement + |
0 |
 |
dysmorphism-cleft palate-loose skin syndrome |
0 |
 |
dysraphism-cleft lip/palate-limb reduction defects syndrome |
0 |
 |
ear malformation + |
0 |
 |
early repolarization associated with ventricular fibrillation |
0 |
 |
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies |
0 |
 |
ectopia lentis 1, isolated, autosomal dominant |
0 |
 |
ectrodactyly and ectodermal dysplasia without cleft lip/palate |
0 |
 |
embryonal rhabdomyosarcoma + |
0 |
 |
endocrine-cerebro-osteodysplasia syndrome |
0 |
 |
enterocolitis + |
0 |
 |
epilepsy, hearing loss, and intellectual disability syndrome |
0 |
 |
epithelial recurrent erosion dystrophy |
0 |
 |
epithelial-stromal TGFBI dystrophy + |
0 |
 |
erythromelalgia + |
0 |
 |
essential hypertension, genetic |
0 |
 |
exercise intolerance, riboflavin-responsive |
0 |
 |
exostoses-anetodermia-brachydactyly type E syndrome |
0 |
 |
extraoral halitosis due to methanethiol oxidase deficiency |
0 |
 |
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome |
0 |
 |
facial dysmorphism-immunodeficiency-livedo-short stature syndrome |
0 |
 |
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
0 |
 |
facial palsy, congenital, with ptosis and velopharyngeal dysfunction |
0 |
 |
familial abdominal aortic aneurysm + |
0 |
 |
familial caudal dysgenesis + |
0 |
 |
familial cavitary optic disk anomaly |
0 |
 |
familial cervical artery dissection |
0 |
 |
familial clubfoot with or without associated lower limb anomalies + |
0 |
 |
familial colorectal cancer + |
0 |
 |
familial gestational hyperthyroidism |
0 |
 |
familial glucocorticoid deficiency |
0 |
 |
familial hemolytic anemia + |
0 |
 |
familial hyperaldosteronism + |
0 |
 |
familial hyperthyroidism due to mutations in TSH receptor |
0 |
 |
familial male-limited precocious puberty |
0 |
 |
familial melanoma |
0 |
 |
familial monosomy 7 syndrome + |
0 |
 |
familial nonmedullary thyroid carcinoma + |
0 |
 |
familial osteosclerosis + |
0 |
 |
familial ovarian cancer + |
0 |
 |
familial pancreatic carcinoma |
0 |
 |
familial parathyroid adenoma |
0 |
 |
familial polycythemia + |
0 |
 |
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
0 |
 |
familial spontaneous pneumothorax |
0 |
 |
familial thoracic aortic aneurysm and aortic dissection + |
0 |
 |
familial thrombocytosis + |
0 |
 |
familial vesicoureteral reflux + |
0 |
 |
febrile seizures, familial + |
0 |
 |
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies |
0 |
 |
fibrodysplasia ossificans progressiva |
0 |
 |
fibromuscular dysplasia |
0 |
 |
fibromuscular dysplasia, multifocal |
0 |
 |
fibrosclerosis, multifocal |
0 |
 |
fibrosis, neurodegeneration, and cerebral angiomatosis |
0 |
 |
fleck corneal dystrophy |
0 |
 |
focal epithelial hyperplasia |
0 |
 |
focal segmental glomerulosclerosis and neurodevelopmental syndrome |
0 |
 |
foveal hypoplasia + |
0 |
 |
fragile X syndrome |
0 |
 |
frontonasal dysplasia + |
0 |
 |
fucosyltransferase 6 deficiency |
0 |
 |
fused mandibular incisors |
0 |
 |
gastric mucosal hypertrophy |
0 |
 |
gastroesophageal reflux disease + |
0 |
 |
gastrointestinal stromal tumor |
0 |
 |
gastroschisis |
0 |
 |
gelatinous drop-like corneal dystrophy |
0 |
 |
genitourinary and/or brain malformation syndrome |
0 |
 |
glaucoma, primary closed-angle |
0 |
 |
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
0 |
 |
global developmental delay with or without impaired intellectual development |
0 |
 |
global developmental delay with speech and behavioral abnormalities |
0 |
 |
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
0 |
 |
glomuvenous malformation |
0 |
 |
glucocorticoid therapy, response to |
0 |
 |
gonadal agenesis |
0 |
 |
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy |
0 |
 |
grange syndrome |
0 |
 |
granulocytopenia with immunoglobulin abnormality |
0 |
 |
growth delay due to insulin-like growth factor I resistance |
0 |
 |
growth delay due to insulin-like growth factor type 1 deficiency |
0 |
 |
growth hormone insensitivity syndrome with immune dysregulation + |
0 |
 |
growth hormone-secreting pituitary adenoma |
0 |
 |
growth restriction, hypoplastic kidneys, alopecia, and distinctive facies |
0 |
 |
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy |
0 |
 |
growth retardation-mild developmental delay-chronic hepatitis syndrome |
0 |
 |
hearing loss, noise-induced, susceptibility to |
0 |
 |
heart defect - tongue hamartoma - polysyndactyly syndrome |
0 |
 |
heart-hand syndrome + |
0 |
 |
hematuria, benign familial + |
0 |
 |
hepatorenocardiac degenerative fibrosis |
0 |
 |
hereditary arterial and articular multiple calcification syndrome |
0 |
 |
hereditary breast carcinoma |
0 |
 |
hereditary chronic pancreatitis |
0 |
 |
hereditary dementia + |
0 |
 |
hereditary disorder of connective tissue + |
0 |
 |
hereditary fallopian tube carcinoma |
0 |
 |
hereditary gallbladder disorder + |
0 |
 |
hereditary gastric cancer + |
0 |
 |
hereditary gingival fibromatosis |
0 |
 |
hereditary glaucoma + |
0 |
 |
hereditary hyperferritinemia with congenital cataracts |
0 |
 |
hereditary hyperparathyroidism + |
0 |
 |
hereditary hypoparathyroidism + |
0 |
 |
hereditary hypophosphatemic rickets + |
0 |
 |
hereditary hypotrichosis with recurrent skin vesicles |
0 |
 |
hereditary neoplastic syndrome + |
0 |
 |
hereditary neuroendocrine tumor of small intestine |
0 |
 |
hereditary neurological disease + |
0 |
 |
hereditary neutrophilia |
0 |
 |
hereditary otorhinolaryngologic disease + |
0 |
 |
hereditary pulmonary alveolar proteinosis + |
0 |
 |
hereditary sensory and autonomic neuropathy with deafness and global delay |
0 |
 |
hereditary skeletal muscle disorder + |
0 |
 |
hereditary skin disorder + |
0 |
 |
heritable pulmonary arterial hypertension + |
0 |
 |
high myopia-sensorineural deafness syndrome |
0 |
 |
horizontal gaze palsy with progressive scoliosis |
0 |
 |
humero-radio-ulnar synostosis + |
0 |
 |
humerofemoral hypoplasia with radiotibial ray deficiency |
0 |
 |
humeroradial synostosis + |
0 |
 |
humerus trochlea aplasia |
0 |
 |
hydroxyprolinemia |
0 |
 |
hyperbiliverdinemia |
0 |
 |
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 |
0 |
 |
hyperopia, high |
0 |
 |
hyperostosis cranialis interna |
0 |
 |
hyperpigmentation of eyelid |
0 |
 |
hyperproinsulinemia |
0 |
 |
hypersensitivity pneumonitis, familial |
0 |
 |
hypersulfaturia |
0 |
 |
hypertelorism and tetralogy of fallot |
0 |
 |
hypertelorism-preauricular sinus-punctual pits-deafness syndrome |
0 |
 |
hypertrichotic osteochondrodysplasia Cantu type |
0 |
 |
hypoalphalipoproteinemia, primary, 2 + |
0 |
 |
hypogonadotropic hypogonadism + |
0 |
 |
hypoinsulinemic hypoglycemia and body hemihypertrophy |
0 |
 |
hypokalemic tubulopathy and deafness |
0 |
 |
hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial |
0 |
 |
hypoparathyroidism-deafness-renal disease syndrome |
0 |
 |
hypopigmentation, organomegaly, and delayed myelination and development |
0 |
 |
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
0 |
 |
hypospadias |
0 |
 |
hypothyroidism, congenital, nongoitrous + |
0 |
 |
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome |
0 |
 |
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities |
0 |
 |
hypotrichosis + |
0 |
 |
ichthyosis prematurity syndrome |
0 |
 |
ichthyosis-cheek-eyebrow syndrome |
0 |
 |
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
0 |
 |
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features |
0 |
 |
immune deficiency disease + |
0 |
 |
immune dysregulation, autoimmunity, and autoinflammation |
0 |
 |
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
0 |
 |
immunodeficiency disease + |
0 |
 |
immunodeficiency, developmental delay, and hypohomocysteinemia |
0 |
 |
imperforate oropharynx-costo vetebral anomalies syndrome |
0 |
 |
inborn errors of metabolism + |
0 |
 |
indifference to pain, congenital, autosomal dominant |
0 |
 |
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development |
0 |
 |
infantile liver failure + |
0 |
 |
inflammatory bowel disease + |
0 |
 |
inherited aplastic anemia + |
0 |
 |
inherited auditory system disease + |
0 |
 |
inherited bleeding disorder, platelet-type + |
0 |
 |
inherited blood coagulation disorder + |
0 |
 |
inherited cutis laxa + |
0 |
 |
inherited deficiency anemia + |
0 |
 |
inherited hemoglobinopathy + |
0 |
 |
inherited hypertrophic pyloric stenosis + |
0 |
 |
inherited isolated nail anomaly + |
0 |
 |
inherited kidney disorder + |
0 |
 |
inherited obesity + |
0 |
 |
inherited oocyte maturation defect + |
0 |
 |
inherited primary ovarian failure + |
0 |
 |
inherited pseudoxanthoma elasticum + |
0 |
 |
inherited sideroblastic anemia + |
0 |
 |
inherited thrombocytopenia + |
0 |
 |
inosine triphosphatase deficiency |
0 |
 |
insulin-resistance syndrome type A |
0 |
 |
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature |
0 |
 |
intellectual developmental disorder with autism and dysmorphic facies |
0 |
 |
intellectual developmental disorder with autistic features and language delay, with or without seizures |
0 |
 |
intellectual developmental disorder with dysmorphic facies and ptosis |
0 |
 |
intellectual developmental disorder with hypertelorism and distinctive facies |
0 |
 |
intellectual developmental disorder with hypotonia and behavioral abnormalities |
0 |
 |
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
0 |
 |
intellectual developmental disorder with macrocephaly, seizures, and speech delay |
0 |
 |
intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects |
0 |
 |
intellectual developmental disorder with or without epilepsy or cerebellar ataxia |
0 |
 |
intellectual developmental disorder with or without peripheral neuropathy |
0 |
 |
intellectual developmental disorder with paroxysmal dyskinesia or seizures |
0 |
 |
intellectual developmental disorder with poor growth and with or without seizures or ataxia |
0 |
 |
intellectual developmental disorder with seizures and language delay |
0 |
 |
intellectual developmental disorder with speech delay and axonal peripheral neuropathy |
0 |
 |
intellectual disability and myopathy syndrome |
0 |
 |
intellectual disability, FRA12A type |
0 |
 |
intellectual disability, short stature, facial anomalies, and joint dislocations |
0 |
 |
intellectual disability-brachydactyly-Pierre Robin syndrome |
0 |
 |
intellectual disability-epilepsy-extrapyramidal syndrome |
0 |
 |
intellectual disability-strabismus syndrome |
0 |
 |
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency |
0 |
 |
ischio-vertebral syndrome |
0 |
 |
islet cell adenomatosis + |
0 |
 |
isolated aniridia |
0 |
 |
isolated congenital breast hypoplasia/aplasia + |
0 |
 |
isolated cryptophthalmia + |
0 |
 |
isolated hyperferritinemia |
0 |
 |
isolated microphthalmia + |
0 |
 |
isolated thyrotropin-releasing hormone deficiency |
0 |
 |
joint contractures, osteochondromas, and B-cell lymphoma |
0 |
 |
juvenile arthritis due to defect in LACC1 |
0 |
 |
kallikrein, decreased urinary activity of |
0 |
 |
keratitis fugax hereditaria |
0 |
 |
keratoconus + |
0 |
 |
keratoderma hereditarium mutilans |
0 |
 |
laminopathy + |
0 |
 |
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia |
0 |
 |
left-right axis malformations |
0 |
 |
lethal congenital contracture syndrome + |
0 |
 |
lethal faciocardiomelic dysplasia |
0 |
 |
lethal polymalformative syndrome, Boissel type |
0 |
 |
lethal recessive chondrodysplasia |
0 |
 |
leukodystrophy and acquired microcephaly with or without dystonia; |
0 |
 |
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome |
0 |
 |
leukoencephalopathy, hereditary diffuse, with spheroids + |
0 |
 |
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome |
0 |
 |
leukoencephalopathy, progressive, infantile-onset, with or without deafness |
0 |
 |
limb transversal defect-cardiac anomaly syndrome |
0 |
 |
liver disease, severe congenital |
0 |
 |
lumbar disc degeneration + |
0 |
 |
lung disease, immunodeficiency, and chromosome breakage syndrome; |
0 |
 |
lymphatic malformation + |
0 |
 |
lymphedema-posterior choanal atresia syndrome |
0 |
 |
macrocephaly, dysmorphic facies, and psychomotor retardation |
0 |
 |
macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin |
0 |
 |
macrocephaly-developmental delay syndrome |
0 |
 |
maleylacetoacetate isomerase deficiency |
0 |
 |
mammary-digital-nail syndrome |
0 |
 |
mandibular hypoplasia-deafness-progeroid syndrome |
0 |
 |
mandibuloacral dysplasia progeroid syndrome |
0 |
 |
mandibulofacial dysostosis with mental deficiency |
0 |
 |
mbd5 associated neurodevelopmental disorder |
0 |
 |
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations |
0 |
 |
megacystis-microcolon-intestinal hypoperistalsis syndrome + |
0 |
 |
megalencephaly-polydactyly syndrome |
0 |
 |
megalocornea + |
0 |
 |
megalodactyly |
0 |
 |
menstrual cycle-dependent periodic fever |
0 |
 |
metachondromatosis |
0 |
 |
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria |
0 |
 |
methylmalonic aciduria and homocystinuria type cblE |
0 |
 |
methylmalonic aciduria and homocystinuria type cblG |
0 |
 |
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum |
0 |
 |
microcephaly, developmental delay, and brittle hair syndrome |
0 |
 |
microcephaly, epilepsy, and diabetes syndrome + |
0 |
 |
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome |
0 |
 |
microcephaly, growth deficiency, seizures, and brain malformations |
0 |
 |
microcephaly, growth restriction and increased sister chromatid exchange + |
0 |
 |
microcephaly, short stature, and limb abnormalities |
0 |
 |
microcephaly-brachydactyly-kyphoscoliosis syndrome |
0 |
 |
microcephaly-capillary malformation syndrome |
0 |
 |
microcephaly-micromelia syndrome |
0 |
 |
microcephaly-thin corpus callosum-intellectual disability syndrome |
0 |
 |
microspherophakia-metaphyseal dysplasia syndrome |
0 |
 |
mitochondrial complex 1 deficiency, nuclear type 35 |
0 |
 |
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency |
0 |
 |
mucocutaneous lymph node syndrome |
0 |
 |
mullerian aplasia and hyperandrogenism |
0 |
 |
multinodular goiter + |
0 |
 |
multiple congenital anomalies-hypotonia-seizures syndrome + |
0 |
 |
multiple congenital anomalies-neurodevelopmental syndrome, X-linked |
0 |
 |
multiple fibroadenoma of the breast |
0 |
 |
multiple synostoses syndrome + |
0 |
 |
multisystemic smooth muscle dysfunction syndrome |
0 |
 |
muscular dystrophy, adult-onset, with leukoencephalopathy |
0 |
 |
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome |
0 |
 |
muscular dystrophy, congenital, with or without seizures |
0 |
 |
myeloperoxidase deficiency |
0 |
 |
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis |
0 |
 |
myopathy, congenital, with excess of muscle spindles |
0 |
 |
myopia 26, X-linked, female-limited |
0 |
 |
myopia 27 |
0 |
 |
myopia 28, autosomal recessive |
0 |
 |
myopia 6 |
0 |
 |
myostatin-related muscle hypertrophy |
0 |
 |
nanophthalmia + |
0 |
 |
nephropathy - deafness - hyperparathyroidism syndrome |
0 |
 |
nephropathy, chronic tubulointerstitial |
0 |
 |
neurocardiofaciodigital syndrome |
0 |
 |
neurodegeneration and seizures due to copper transport defect |
0 |
 |
neurodegeneration with ataxia and late-onset optic atrophy |
0 |
 |
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
0 |
 |
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline |
0 |
 |
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline |
0 |
 |
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities |
0 |
 |
neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia |
0 |
 |
neurodegeneration, infantile-onset, biotin-responsive |
0 |
 |
neurodevelopmental, jaw, eye, and digital syndrome |
0 |
 |
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
0 |
 |
neuroectodermal melanolysosomal disease |
0 |
 |
neurofacioskeletal syndrome with or without renal agenesis |
0 |
 |
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset + |
0 |
 |
neuromuscular disease and ocular or auditory anomalies with or without seizures |
0 |
 |
nonimmune chronic idiopathic neutropenia of adults |
0 |
 |
obesity, hyperphagia, and developmental delay |
0 |
 |
oculoauriculovertebral spectrum with radial defects + |
0 |
 |
oculocerebrofacial syndrome, Kaufman type |
0 |
 |
oculogastrointestinal-neurodevelopmental syndrome |
0 |
 |
oculomaxillofacial dysostosis + |
0 |
 |
oculomotor-abducens synkinesis |
0 |
 |
oculopharyngeal myopathy with leukoencephalopathy 1 |
0 |
 |
oculotrichoanal syndrome |
0 |
 |
oligodontia-cancer predisposition syndrome |
0 |
 |
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome |
0 |
 |
ophthalmomandibulomelic dysplasia |
0 |
 |
ophthalmoplegia, external, with rib and vertebral anomalies |
0 |
 |
orofacial cleft + |
0 |
 |
orofaciodigital syndrome + |
0 |
 |
oromandibular-limb hypogenesis syndrome + |
0 |
 |
osteitis deformans + |
0 |
 |
osteochondrodysplasia, brachydactyly, and overlapping malformed digits |
0 |
 |
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome |
0 |
 |
osteogenesis imperfecta + |
0 |
 |
osteoglophonic dwarfism |
0 |
 |
osteonecrosis of genetic origin + |
0 |
 |
osteootohepatoenteric syndrome |
0 |
 |
osteoporosis, childhood- or juvenile-onset, with developmental delay |
0 |
 |
osteoporosis-oculocutaneous hypopigmentation syndrome |
0 |
 |
ovarian hyperstimulation syndrome |
0 |
 |
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures |
0 |
 |
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome |
0 |
 |
pancreatic agenesis + |
0 |
 |
pancreatic beta cell agenesis with neonatal diabetes mellitus |
0 |
 |
pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
0 |
 |
patella aplasia/hypoplasia + |
0 |
 |
pathological gambling |
0 |
 |
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
0 |
 |
pellagra-like syndrome |
0 |
 |
periodic fever, immunodeficiency, and thrombocytopenia syndrome |
0 |
 |
peripheral arterial occlusive disease 1 |
0 |
 |
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
0 |
 |
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
0 |
 |
pernicious anemia |
0 |
 |
peroxisome biogenesis disorder, complementation group 7 |
0 |
 |
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome |
0 |
 |
phosphohydroxylysinuria |
0 |
 |
phosphoribosylaminoimidazole carboxylase deficiency |
0 |
 |
pigment dispersion syndrome |
0 |
 |
pigmented purpuric eruption |
0 |
 |
plasma fibronectin deficiency |
0 |
 |
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
0 |
 |
polycystic ovary syndrome |
0 |
 |
polydactyly + |
0 |
 |
polydactyly-macrocephaly syndrome |
0 |
 |
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome |
0 |
 |
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal |
0 |
 |
porencephaly-microcephaly-bilateral congenital cataract syndrome |
0 |
 |
postaxial tetramelic oligodactyly |
0 |
 |
posterior polymorphous corneal dystrophy |
0 |
 |
preeclampsia + |
0 |
 |
premature chromatid separation trait |
0 |
 |
preterm premature rupture of the membranes |
0 |
 |
primary failure of tooth eruption |
0 |
 |
primary hypertrophic osteoarthropathy + |
0 |
 |
primary immunodeficiency syndrome due to p14 deficiency |
0 |
 |
primary intraosseous venous malformation |
0 |
 |
primary pigmented nodular adrenocortical disease + |
0 |
 |
progeria + |
0 |
 |
progressive deafness with stapes fixation |
0 |
 |
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
0 |
 |
progressive non-infectious anterior vertebral fusion |
0 |
 |
prostate cancer, hereditary + |
0 |
 |
protein Z deficiency |
0 |
 |
proteinuria, chronic benign |
0 |
 |
pseudohyperaldosteronism type 2 |
0 |
 |
ptosis, hereditary congenital, 1 |
0 |
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pulmonary alveolar microlithiasis |
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pulmonary alveolar proteinosis with hypogammaglobulinemia |
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pulmonary atresia with ventricular septal defect |
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pulmonary fibrosis and/or bone marrow failure, telomere-related + |
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pulmonary venoocclusive disease + |
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pyropoikilocytosis, hereditary |
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radial deficiency-tibial hypoplasia syndrome |
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radio-renal syndrome |
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rasopathy + |
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recombinant 8 syndrome |
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renal-hepatic-pancreatic dysplasia + |
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respiratory infections, recurrent, and failure to thrive with or without diarrhea |
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respiratory papillomatosis, juvenile recurrent, congenital |
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restrictive dermopathy + |
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retinal dystrophy and microvillus inclusion disease |
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retinal dystrophy with or without macular staphyloma |
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retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome |
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retinitis pigmentosa 89 |
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retinitis pigmentosa and erythrocytic microcytosis |
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retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
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retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome |
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rhizomelic limb shortening with dysmorphic features |
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ring dermoid of cornea |
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rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction |
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ryr1-related disorders |
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sandestig-stefanova syndrome |
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scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities |
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sclerosteosis + |
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seizures, early-onset, with neurodegeneration and brain calcifications |
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serpinopathy + |
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severe congenital neutropenia + |
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severe dermatitis-multiple allergies-metabolic wasting syndrome |
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severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
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severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
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severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome |
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short stature due to GHSR deficiency |
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short stature due to primary acid-labile subunit deficiency |
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short stature, Brussels type |
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short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis |
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short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies + |
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short stature, oligodontia, dysmorphic facies, and motor delay |
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short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay |
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shoulder and thorax deformity-congenital heart disease syndrome |
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skeletal defects, genital hypoplasia, and intellectual disability |
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skeletal dysplasia + |
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skeletal dysplasia and progressive central nervous system degeneration, lethal |
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skeletal dysplasia, mild, with joint laxity and advanced bone age |
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spastic paraparesis-deafness syndrome |
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spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
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specific granule deficiency |
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spina bifida + |
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spinal muscular atrophy, infantile, James type |
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splenogonadal fusion-limb defects-micrognathia syndrome |
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split hand-foot malformation + |
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split-foot malformation-mesoaxial polydactyly syndrome |
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spondylocostal dysostosis + |
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spondylocostal dysostosis-anal and genitourinary malformations syndrome |
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spondylocostal dysostosis-hypospadias-intellectual disability syndrome |
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spondylolisthesis |
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spondylometaphyseal dysplasia with corneal dystrophy |
0 |
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squalene synthase deficiency |
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stag1-related disorder |
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structural brain anomalies with impaired intellectual development and craniosynostosis |
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sudden infant death-dysgenesis of the testes syndrome |
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symphalangism with multiple anomalies of hands and feet |
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syndactyly + |
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syndromic microphthalmia + |
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syndromic multisystem autoimmune disease due to ITCH deficiency |
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syngnathia multiple anomalies |
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syngnathia-cleft palate syndrome |
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tall stature-intellectual disability-renal anomalies syndrome |
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taurodontism |
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taurodontism, microdontia, and dens invaginatus |
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teeth, supernumerary |
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temtamy syndrome |
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tethered spinal cord syndrome |
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tetraamelia-multiple malformations syndrome |
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tetramelic monodactyly |
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tetrasomy 18p |
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thickened earlobes-conductive deafness syndrome |
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thrombocytopenia, anemia, and myelofibrosis |
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thrombocytopenia-Robin sequence syndrome |
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thymoma, familial |
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thyroid hormone metabolism, abnormal + |
0 |
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tibial aplasia-ectrodactyly syndrome + |
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tooth agenesis + |
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tooth ankylosis |
0 |
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tp63-related spectrum disorders |
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transient infantile hypertriglyceridemia and hepatosteatosis |
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trichilemmal cyst |
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trichohepatoneurodevelopmental syndrome |
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trichomegaly |
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trichotillomania |
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triokinase and FMN cyclase deficiency syndrome |
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triphalangeal thumb-polysyndactyly syndrome |
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trypsinogen deficiency |
0 |
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turnpenny-fry syndrome |
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ulna hypoplasia-intellectual disability syndrome |
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ulnar hypoplasia-split foot syndrome |
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ureterocele |
0 |
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urinary bladder, atony of |
0 |
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uveal coloboma-cleft lip and palate-intellectual disability |
0 |
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van Maldergem syndrome + |
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van der Woude syndrome 1 |
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varicella, severe recurrent |
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ventriculomegaly and arthrogryposis |
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ventriculomegaly-cystic kidney disease |
0 |
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vertebral anomalies and variable endocrine and T-cell dysfunction |
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vertebral hypersegmentation and orofacial anomalies |
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vertebral, cardiac, tracheoesophageal, renal, and limb defects |
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visceral Leishmaniasis |
0 |
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visceral myopathy 1 + |
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visceral neuropathy, familial + |
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visual impairment and progressive phthisis bulbi |
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vitreoretinopathy with phalangeal epiphyseal dysplasia |
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volvulus of midgut + |
0 |
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woolly hair-skin fragility syndrome |
0 |
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wooly hair, autosomal recessive 3 |
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wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia |
0 |
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xerosis and growth failure with immune and pulmonary dysfunction syndrome |
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zinc deficiency, transient neonatal |
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zinc, elevated plasma + |
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