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17q11.2 microduplication syndrome
46,XX disorder of sex development-anorectal anomalies syndrome
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
6q terminal deletion syndrome
7q11.23 microduplication syndrome +
8p23.1 microdeletion syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
absence deformity of leg-cataract syndrome
absent radius-anogenital anomalies syndrome
acetyl-CoA acetyltransferase-2 deficiency
achalasia-alacrima syndrome
acrofrontofacionasal dysostosis 2
acroleukopathy, symmetric
acroosteolysis-keloid-like lesions-premature aging syndrome
ACTH-independent macronodular adrenal hyperplasia 1
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute respiratory distress syndrome +
adenosine triphosphatase deficiency, anemia due to
aganglionosis, total intestinal
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agnathia-otocephaly complex
AKT3-related overgrowth spectrum +
alcohol sensitivity, acute
Alkuraya-Kucinskas syndrome
alopecia - intellectual disability syndrome
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
alpha 1-antitrypsin deficiency
alpha thalassemia-intellectual disability syndrome type 1
alpha-thalassemia-myelodysplastic syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
alveolar soft part sarcoma +
amelogenesis imperfecta +
androgen insensitivity syndrome +
anemia, hypochromic microcytic with iron overload +
angiokeratoma corporis diffusum with arteriovenous fistulas
angioosteohypertrophic syndrome
angioosteohypotrophic syndrome
aniridia - intellectual disability syndrome
aniridia-absent patella syndrome
aniridia-cerebellar ataxia-intellectual disability syndrome
aniridia-ptosis-intellectual disability-familial obesity syndrome
aniridia-renal agenesis-psychomotor retardation syndrome
ankyloblepharon filiforme adnatum-cleft palate syndrome
ankyloblepharon filiforme-imperforate anus syndrome
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
anterior segment dysgenesis +
anterior spinal artery syndrome
antiphospholipid syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
aplasia cutis congenita-intestinal lymphangiectasia syndrome
aplasia of lacrimal and salivary glands
apparent mineralocorticoid excess syndrome
arachnodactyly-intellectual disability-dysmorphism syndrome
arhinia, choanal atresia, and microphthalmia +
arterial calcification of infancy +
arteriovenous malformations of the brain
arthrogryposis multiplex congenita +
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
arthrogryposis, Perthes disease, and upward gaze palsy
arthrogryposis-renal dysfunction-cholestasis syndrome +
asthma, nasal polyps, and aspirin intolerance
ataxia - telangiectasia variant
ataxia, intention tremor, and hypotonia syndrome, childhood-onset
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
atrial septal defect, coronary sinus type
atrichia with papular lesions
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
atrioventricular dissociation +
atypical hemolytic-uremic syndrome +
autism-facial port-wine stain syndrome
autoimmune polyendocrinopathy +
autoinflammation with arthritis and dyskeratosis
autoinflammation with pulmonary and cutaneous vasculitis
autoinflammation, immune dysregulation, and eosinophilia
autoinflammatory syndrome +
autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
autosomal dominant cataract
autosomal dominant chondrodysplasia punctata +
autosomal dominant deafness - onychodystrophy syndrome Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal dominant wooly hair
autosomal genetic disease +
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
autosomal recessive multiple pterygium syndrome +
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
Axenfeld-Rieger syndrome +
axial mesodermal dysplasia spectrum
azoospermia, obstructive, with nephrolithiasis
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Bamforth-Lazarus syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
Bartholin gland neoplasm +
Basilicata-Akhtar syndrome
beta-aminoisobutyric acid, urinary excretion of
bilateral microtia-deafness-cleft palate syndrome
bile acid conjugation defect 1
bile acid malabsorption, primary, 1
biliary, renal, neurologic, and skeletal syndrome
Birbeck granule deficiency
Birt-Hogg-Dube syndrome +
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis-impaired intellectual development syndrome
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
blistering, acantholytic, of oral and laryngeal mucosa
bone marrow failure syndrome +
Bonnemann-Meinecke-Reich syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-arterial hypertension syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
brachytelephalangy-dysmorphism-Kallmann syndrome
Braddock-Carey syndrome +
brain abnormalities, neurodegeneration, and dysosteosclerosis
branchio-oto-renal syndrome
breast fibrocystic disease +
Bryant-Li-Bhoj neurodevelopmental syndrome +
bullous dystrophy, macular type
Buschke-Ollendorff syndrome
camptodactyly syndrome, Guadalajara +
Camptosynpolydactyly, complex
Camurati-Engelmann disease
capillary infantile hemangioma
capillary malformation-arteriovenous malformation syndrome +
cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
cardiac valvular defect +
cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
cardioacrofacial dysplasia +
cardioectodermal syndrome +
cardiofacioneurodevelopmental syndrome
cardiomyopathy-cataract-hip spine disease syndrome
Carey-Fineman-Ziter syndrome
cataract - microcornea syndrome
cataract-deafness-hypogonadism syndrome
cataract-glaucoma syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
cataract-nephropathy-encephalopathy syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +
caudal regression-sirenomelia spectrum +
cavernous hemangiomas of face-supraumbilical midline raphe syndrome
central areolar choroidal dystrophy +
central centrifugal cicatricial alopecia
central hypoventilation syndrome, congenital +
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
central hypoventilation syndrome, late-onset
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Central precocious puberty +
central sleep apnea syndrome +
cerebellar ataxia, brain abnormalities, and cardiac conduction defects
cerebellar ataxia, intellectual disability, and dysequilibrium +
cerebellar atrophy, developmental delay, and seizures
cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
cerebellar, ocular, craniofacial, and genital syndrome
cerebelloparenchymal disorder +
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
cerebrocostomandibular syndrome
Cerebrorenodigital syndrome
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
chitotriosidase deficiency
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
cholestasis-pigmentary retinopathy-cleft palate syndrome
chondrodysplasia-pseudohermaphroditism syndrome
Chopra-Amiel-Gordon syndrome
chorea, childhood-onset, with psychomotor retardation
chromosome 13q14 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 1p32-p31 deletion syndrome
chromosome-defective micronuclei
chronic atrial and intestinal dysrhythmia
Chudley-McCullough syndrome
circumscribed cutaneous aplasia of the vertex
cleft lip-retinopathy syndrome
cleft lip/palate-deafness-sacral lipoma syndrome
cleft palate, proliferative retinopathy, and developmental delay
cleft palate-large ears-small head syndrome
cleidocranial dysplasia 1
cleidorhizomelic syndrome
cochleosaccular degeneration-cataract syndrome
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
cognitive impairment with or without cerebellar ataxia
COL4A1-related disorder +
coloboma, ocular, autosomal dominant +
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
combined low LDL and fibrinogen
combined oxidative phosphorylation deficiency 49
combined oxidative phosphorylation deficiency 50
complex hereditary spastic paraplegia +
cone-rod dystrophy and hearing loss
cone-rod synaptic disorder syndrome, congenital nonprogressive
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital bilateral absence of vas deferens +
congenital cataract-ichthyosis syndrome
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
congenital contractures of the limbs and face, hypotonia, and developmental delay
Congenital deficiency in alpha-fetoprotein
congenital enteropathy due to enteropeptidase deficiency
congenital heart defects and ectodermal dysplasia
congenital heart defects and skeletal malformations syndrome
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, multiple types, 7
congenital heart malformation +
congenital hereditary endothelial dystrophy of cornea
congenital hereditary facial paralysis-variable hearing loss syndrome
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
congenital ichthyosis-microcephalus-tetraplegia syndrome
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital myasthenic syndrome +
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
congenital pseudoarthrosis of clavicle
congenital pseudoarthrosis of the limbs +
congenital short bowel syndrome, autosomal recessive
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
congenital stromal corneal dystrophy
congenital vertical talus +
contractures, pterygia, and variable skeletal fusions syndrome +
corneal dystrophy, punctiform and polychromatic pre-descemet
corneal dystrophy-perceptive deafness syndrome
corneal-cerebellar syndrome
Cornelia de Lange syndrome
corpus callosum agenesis-abnormal genitalia syndrome
cortical blindness-intellectual disability-polydactyly syndrome
cortical dysplasia-focal epilepsy syndrome
corticobasal degeneration disorder
corticosteroid-binding globulin deficiency
corticosterone methyloxidase type 2 deficiency
craniofacial anomalies and anterior segment dysgenesis syndrome
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofacial dysplasia - osteopenia syndrome
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
craniometadiaphyseal osteosclerosis with hip dysplasia
Crigler-Najjar syndrome +
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy +
cyanosis, transient neonatal +
cystic fibrosis-gastritis-megaloblastic anemia syndrome
de Sanctis-Cacchione syndrome
deafness with labyrinthine aplasia, microtia, and microdontia
deafness, congenital heart defects, and posterior embryotoxon
deafness, congenital, and adult-onset progressive leukoencephalopathy
deafness-ear malformation-facial palsy syndrome
deafness-epiphyseal dysplasia-short stature syndrome
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
deafness-hypogonadism syndrome
deafness-infertility syndrome
deafness-intellectual disability, Martin-Probst type syndrome
deafness-lymphedema-leukemia syndrome
deafness-small bowel diverticulosis-neuropathy syndrome
deafness-vitiligo-achalasia syndrome
delayed puberty, self-limited
dentin dysplasia type I +
dentin dysplasia-sclerotic bones syndrome
dentinogenesis imperfecta type 2 +
dentinogenesis imperfecta type 3
dermochondrocorneal dystrophy
DeSanto-Shinawi syndrome due to WAC point mutation
developmental and speech delay due to SOX5 deficiency
developmental delay with dysmorphic facies and dental anomalies
developmental delay with hypotonia, myopathy, and brain abnormalities
developmental delay with or without dysmorphic facies and autism
developmental delay with or without intellectual impairment or behavioral abnormalities
developmental delay with short stature, dysmorphic facial features, and sparse hair +
developmental delay with variable intellectual disability and dysmorphic facies
developmental delay with variable intellectual impairment and behavioral abnormalities
Developmental delay with variable intellectual impairment and behavioural abnormalities
developmental delay, behavioral abnormalities, and neuropsychiatric disorders
developmental delay, hypotonia, and impaired language
developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
developmental delay, language impairment, and ocular abnormalities
developmental dysplasia of the hip
diabetes, deafness, developmental delay, and short stature syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
diaphragmatic eventration
DICER1-related tumor predisposition +
diencephalic-mesencephalic junction dysplasia
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
diffuse idiopathic skeletal hyperostosis
digital anomalies-intellectual disability-short stature syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1E
disabling pansclerotic morphea of childhood
disappearing bone disease +
Disorder of amino acid and other organic acid metabolism +
Disorder of biogenic amine metabolism and transport +
Disorder of carbohydrate metabolism +
Disorder of energy metabolism +
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation +
Disorder of lipid metabolism +
disorder of pilosebaceous unit +
Disorder of porphyrin and haem metabolism +
Disorder of purine or pyrimidine metabolism +
Disorder of vitamin and non-protein cofactor absorption and transport +
diverticulosis of bowel, hernia, and retinal detachment
DK1-congenital disorder of glycosylation
double uterus-hemivagina-renal agenesis syndrome
Duane retraction syndrome +
Duane-radial ray syndrome +
dwarfism, intellectual disability, and eye abnormality
Dyggve-Melchior-Clausen disease +
dyschondrosteosis-nephritis syndrome
dyskinesia with orofacial involvement +
dysmorphism-cleft palate-loose skin syndrome
dysraphism-cleft lip/palate-limb reduction defects syndrome
dyssegmental dysplasia-glaucoma syndrome
early repolarization associated with ventricular fibrillation
ectodermal dysplasia syndrome +
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
ectopia lentis 1, isolated, autosomal dominant
ectrodactyly and ectodermal dysplasia without cleft lip/palate
ectrodactyly-polydactyly syndrome
embryonal rhabdomyosarcoma +
EN1-related dorsoventral syndrome +
endocrine-cerebro-osteodysplasia syndrome
enlarged vestibular aqueduct syndrome
EPHB4-associated vascular malformation spectrum +
epidermolysis bullosa simplex 5B, with muscular dystrophy
epilepsy, hearing loss, and intellectual disability syndrome
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
epithelial recurrent erosion dystrophy
epithelial-stromal TGFBI dystrophy +
essential hypertension, genetic
exercise intolerance, riboflavin-responsive
exostoses-anetodermia-brachydactyly type E syndrome
extraoral halitosis due to methanethiol oxidase deficiency
eyebrow duplication-syndactyly syndrome
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
faciodigitogenital syndrome +
familial abdominal aortic aneurysm +
familial atypical multiple mole melanoma syndrome
familial caudal dysgenesis +
familial cavitary optic disk anomaly
familial cervical artery dissection
familial chylomicronemia syndrome +
familial clubfoot with or without associated lower limb anomalies +
familial colorectal cancer +
familial episodic pain syndrome with predominantly lower limb involvement
familial gestational hyperthyroidism
familial glucocorticoid deficiency
familial hemolytic anemia +
familial hyperaldosteronism +
familial hyperthyroidism due to mutations in TSH receptor
familial infantile bilateral striatal necrosis
familial intestinal malrotation-facial anomalies syndrome
familial long QT syndrome +
familial male-limited precocious puberty
familial monosomy 7 syndrome +
familial nonmedullary thyroid carcinoma +
familial osteodysplasia, Anderson type
familial osteosclerosis +
familial ovarian cancer +
familial pancreatic carcinoma
familial parathyroid adenoma
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
familial spontaneous pneumothorax
familial thoracic aortic aneurysm and aortic dissection +
familial thrombocytosis +
familial tumoral calcinosis +
familial vesicoureteral reflux +
Fanconi renotubular syndrome +
febrile seizures, familial +
ferro-cerebro-cutaneous syndrome
fetal akinesia deformation sequence +
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
fetal enterovirus syndrome
fibrodysplasia ossificans progressiva
fibromatosis multiple non ossifying
fibromuscular dysplasia, multifocal
fibrosclerosis, multifocal
fibrosis, neurodegeneration, and cerebral angiomatosis
fibular aplasia-ectrodactyly syndrome
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
focal epithelial hyperplasia
focal segmental glomerulosclerosis and neurodevelopmental syndrome
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
fragile X-associated tremor/ataxia syndrome
frontofacionasal dysplasia
frontonasal dysplasia with alopecia and genital anomaly
Fuchs' endothelial dystrophy +
fucosyltransferase 6 deficiency
fused mandibular incisors
Gabriele de Vries syndrome
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
gastric mucosal hypertrophy
gastroesophageal reflux disease +
gastrointestinal stromal tumor
GATA1-Related X-Linked Cytopenia +
GCGR-related hyperglucagonemia
gelatinous drop-like corneal dystrophy
Genetic hyperferritinemia without iron overload
genitourinary and/or brain malformation syndrome
gingival fibromatosis-facial dysmorphism syndrome
glaucoma, primary closed-angle
glaucoma-sleep apnea syndrome
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
global developmental delay with or without impaired intellectual development
global developmental delay with speech and behavioral abnormalities
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
global developmental delay, progressive ataxia, and elevated glutamine
global developmental delay-osteopenia-ectodermal defect syndrome
glucocorticoid therapy, response to
Goldberg-Shprintzen syndrome
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
granulocytopenia with immunoglobulin abnormality
Greig cephalopolysyndactyly syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
growth delay due to insulin-like growth factor I resistance
growth delay due to insulin-like growth factor type 1 deficiency
growth delay-hydrocephaly-lung hypoplasia syndrome
growth hormone insensitivity syndrome +
growth hormone insensitivity syndrome with immune dysregulation +
growth hormone-secreting pituitary adenoma
growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
growth retardation-mild developmental delay-chronic hepatitis syndrome
Grubben-de Cock-Borghgraef syndrome
Guillain-Barre syndrome +
hair defect with photosensitivity and intellectual disability syndrome
hand-foot-genital syndrome
hantavirus pulmonary syndrome
Hartsfield-Bixler-Demyer syndrome
hearing impairment and infertile male syndrome
hearing loss, noise-induced, susceptibility to
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
heart defect - tongue hamartoma - polysyndactyly syndrome
hematuria, benign familial +
hemophagocytic syndrome +
Hengel-Maroofian-Schols syndrome
hepatic fibrosis-renal cysts-intellectual disability syndrome
hepatorenocardiac degenerative fibrosis
hereditary arterial and articular multiple calcification syndrome
hereditary benign intraepithelial dyskeratosis
hereditary breast carcinoma
hereditary chronic pancreatitis
hereditary continuous muscle fiber activity
hereditary disorder of connective tissue +
hereditary fallopian tube carcinoma
hereditary gallbladder disorder +
hereditary gastric cancer +
hereditary gingival fibromatosis
hereditary hyperferritinemia with congenital cataracts
hereditary hyperparathyroidism +
hereditary hypoparathyroidism +
hereditary hypophosphatemic rickets +
hereditary hypotrichosis with recurrent skin vesicles
hereditary neoplastic syndrome +
hereditary neuroendocrine tumor of small intestine
hereditary neurological disease +
hereditary otorhinolaryngologic disease +
Hereditary persistence of alpha-fetoprotein
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
hereditary pulmonary alveolar proteinosis +
hereditary sensory and autonomic neuropathy with deafness and global delay
hereditary skeletal muscle disorder +
hereditary skin disorder +
heritable pulmonary arterial hypertension +
Heyn-Sproul-Jackson syndrome
high myopia-sensorineural deafness syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
holoprosencephaly-postaxial polydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
horizontal gaze palsy with progressive scoliosis
Houge-Janssens syndrome +
humero-radio-ulnar synostosis +
humerofemoral hypoplasia with radiotibial ray deficiency
humeroradial synostosis +
Hutchinson-Gilford progeria syndrome
hydrocephalus-blue sclerae-nephropathy syndrome
hydrocephalus-obesity-hypogonadism syndrome
hydrocephaly-cerebellar agenesis syndrome
Hypereosinophilic syndrome +
hypergonadotropic hypogonadism-cataract syndrome
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
hyperostosis cranialis interna
hyperpigmentation of eyelid
hypersensitivity pneumonitis, familial
hypertelorism and tetralogy of fallot
hypertelorism-preauricular sinus-punctual pits-deafness syndrome
hypertrichotic osteochondrodysplasia Cantu type
hypoalphalipoproteinemia, primary, 2 +
hypogonadism-mitral valve prolapse-intellectual disability syndrome
hypogonadotropic hypogonadism +
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
hypoinsulinemic hypoglycemia and body hemihypertrophy
hypokalemic tubulopathy and deafness
hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypopigmentation, organomegaly, and delayed myelination and development
hypoplastic left heart syndrome +
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
hypospadias-intellectual disability, Goldblatt type syndrome
hypothyroidism, congenital, nongoitrous +
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
hypotonia-cystinuria syndrome +
hypotrichosis-deafness syndrome
hypotrichosis-intellectual disability, Lopes type
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
ichthyosis linearis circumflexa
ichthyosis prematurity syndrome
ichthyosis-cheek-eyebrow syndrome
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ichthyosis-oral and digital anomalies syndrome
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
IgE responsiveness, atopic
Imagawa-Matsumoto syndrome
Imerslund-Grasbeck syndrome +
immune deficiency disease +
immune dysregulation, autoimmunity, and autoinflammation
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency disease +
immunodeficiency, developmental delay, and hypohomocysteinemia
imperforate oropharynx-costo vetebral anomalies syndrome
inborn errors of metabolism +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
indifference to pain, congenital, autosomal dominant
infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
infantile convulsions and choreoathetosis
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
infantile liver failure +
inflammatory bowel disease +
inflammatory bowel disease, immunodeficiency, and encephalopathy
infundibulopelvic stenosis-multicystic kidney syndrome
inherited aplastic anemia +
inherited auditory system disease +
inherited bleeding disorder, platelet-type +
inherited blood coagulation disorder +
Inherited cancer-predisposing syndrome +
inherited deficiency anemia +
inherited hemoglobinopathy +
inherited hypertrophic pyloric stenosis +
inherited isolated nail anomaly +
inherited kidney disorder +
inherited oocyte maturation defect +
inherited primary ovarian failure +
inherited pseudoxanthoma elasticum +
inherited sideroblastic anemia +
inherited thrombocytopenia +
inosine triphosphatase deficiency
insulin-resistance syndrome type A
integumentary system benign neoplasm +
integumentary system cancer +
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
intellectual developmental disorder with autism and dysmorphic facies
intellectual developmental disorder with autistic features and language delay, with or without seizures
intellectual developmental disorder with dysmorphic facies and ptosis
intellectual developmental disorder with hypertelorism and distinctive facies
intellectual developmental disorder with hypotonia and behavioral abnormalities
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with macrocephaly, seizures, and speech delay
intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
intellectual developmental disorder with or without epilepsy or cerebellar ataxia
intellectual developmental disorder with or without peripheral neuropathy
intellectual developmental disorder with paroxysmal dyskinesia or seizures
intellectual developmental disorder with poor growth and with or without seizures or ataxia
intellectual developmental disorder with seizures and language delay
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder with speech delay and axonal peripheral neuropathy
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual developmental disorder, autosomal recessive 72
intellectual disability and myopathy syndrome
intellectual disability, autosomal dominant 29
intellectual disability, FRA12A type
intellectual disability, short stature, facial anomalies, and joint dislocations
intellectual disability-brachydactyly-Pierre Robin syndrome
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
intellectual disability-cataracts-kyphosis syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-expressive aphasia-facial dysmorphism syndrome
intellectual disability-hypotonia-skin hyperpigmentation syndrome
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
intellectual disability-strabismus syndrome
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
iridocorneal endothelial syndrome +
ischio-vertebral syndrome
islet cell adenomatosis +
isolated congenital breast hypoplasia/aplasia +
isolated cryptophthalmia +
isolated hyperferritinemia
isolated microphthalmia +
isolated thyrotropin-releasing hormone deficiency
joint contractures, osteochondromas, and B-cell lymphoma
joint laxity, short stature, and myopia
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect +
juvenile arthritis due to defect in LACC1
kallikrein, decreased urinary activity of
Karsch-Neugebauer syndrome
Kaya-Barakat-Masson syndrome
keratitis fugax hereditaria
keratoderma hereditarium mutilans
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Khan-Khan-Katsanis syndrome
Kohlschutter-Tonz syndrome-like
Koolen-de Vries syndrome +
Landau-Kleffner syndrome +
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
laryngeal abductor paralysis-intellectual disability syndrome
laryngo-onycho-cutaneous syndrome
lateral medullary syndrome
left ventricular noncompaction +
left-right axis malformations
Lennox-Gastaut syndrome +
Lenz-Majewski hyperostotic dwarfism
Lessel-Kreienkamp syndrome
lethal congenital contracture syndrome +
lethal congenital contracture syndrome 1
lethal faciocardiomelic dysplasia
lethal hemolytic anemia-genital anomalies syndrome
lethal multiple pterygium syndrome +
lethal polymalformative syndrome, Boissel type
lethal recessive chondrodysplasia
Leukocyte-Adhesion Deficiency Syndrome
leukodystrophy and acquired microcephaly with or without dystonia;
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
leukoencephalopathy, hereditary diffuse, with spheroids +
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
leukoencephalopathy, progressive, infantile-onset, with or without deafness
Leydig cell hypoplasia, type 1 +
Li-Ghorbani-Weisz-Hubshman syndrome
limb transversal defect-cardiac anomaly syndrome
Lisch epithelial corneal dystrophy
liver disease, severe congenital
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
lower limb deficiency-hypospadias syndrome
Lown-Ganong-Levine syndrome
LTBP2-related ocular dysgenesis +
lumbar disc degeneration +
lung agenesis-heart defect-thumb anomalies syndrome
lung disease, immunodeficiency, and chromosome breakage syndrome;
Luo-Schoch-Yamamoto syndrome
lymphedema-atrial septal defects-facial changes syndrome
lymphedema-cerebral arteriovenous anomaly syndrome
lymphedema-distichiasis syndrome
lymphedema-posterior choanal atresia syndrome
macrocephaly, dysmorphic facies, and psychomotor retardation
macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
macrocephaly-developmental delay syndrome
macrocephaly-short stature-paraplegia syndrome
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Malan overgrowth syndrome
maleylacetoacetate isomerase deficiency
mammary-digital-nail syndrome
mandibular hypoplasia-deafness-progeroid syndrome
mandibuloacral dysplasia progeroid syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis with mental deficiency
Marinesco-Sjogren syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
mbd5 associated neurodevelopmental disorder
Meesmann corneal dystrophy +
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephaly-polydactyly syndrome
Melkersson-Rosenthal syndrome
Mendelian encephalopathy +
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
menstrual cycle-dependent periodic fever
mesomelic dwarfism-cleft palate-camptodactyly syndrome
metaphyseal chondrodysplasia, Jansen type
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
methylmalonic aciduria and homocystinuria type cblE
methylmalonic aciduria and homocystinuria type cblG
microcephalic osteodysplastic primordial dwarfism types I and III +
microcephalic primordial dwarfism due to RTTN deficiency +
microcephalic primordial dwarfism, Alazami type
microcephalic primordial dwarfism, Toriello type
microcephaly and chorioretinopathy 1
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
microcephaly, developmental delay, and brittle hair syndrome
microcephaly, epilepsy, and diabetes syndrome +
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly, growth restriction and increased sister chromatid exchange +
microcephaly, short stature, and limb abnormalities
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-brain defect-spasticity-hypernatremia syndrome
microcephaly-capillary malformation syndrome
microcephaly-complex motor and sensory axonal neuropathy syndrome
microcephaly-microcornea syndrome, Seemanova type
microcephaly-micromelia syndrome
microcephaly-thin corpus callosum-intellectual disability syndrome
microlissencephaly-micromelia syndrome
microspherophakia-metaphyseal dysplasia syndrome
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mikati-Najjar-Sahli syndrome
Miller-Dieker lissencephaly syndrome
mirror polydactyly-vertebral segmentation-limbs defects syndrome
mitochondrial complex 1 deficiency, nuclear type 35
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mitochondrial neurogastrointestinal encephalomyopathy
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
motor developmental delay due to 14q32.2 paternally expressed gene defect +
MPI-congenital disorder of glycosylation
mucocutaneous lymph node syndrome
mucopolysaccharidosis type 2 +
mucopolysaccharidosis type 3 +
mucopolysaccharidosis type 4 +
mucopolysaccharidosis type 6 +
Mullegama-Klein-Martinez syndrome
mullerian aplasia and hyperandrogenism
mullerian derivatives-lymphangiectasia-polydactyly syndrome
mullerian duct anomalies-limb anomalies syndrome
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple congenital anomalies-neurodevelopmental syndrome, X-linked
multiple fibroadenoma of the breast
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
multiple synostoses syndrome +
multisystemic smooth muscle dysfunction syndrome
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
muscular dystrophy, adult-onset, with leukoencephalopathy
muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
muscular dystrophy, congenital, with or without seizures
muscular pseudohypertrophy-hypothyroidism syndrome
myeloperoxidase deficiency
myoclonic-astatic epilepsy
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis
myopathy, congenital, with excess of muscle spindles
myopathy-growth delay-intellectual disability-hypospadias syndrome
myopia 26, X-linked, female-limited
myopia 28, autosomal recessive
myostatin-related muscle hypertrophy
N-acetylaspartate deficiency
Nager acrofacial dysostosis
nasopalpebral lipoma-coloboma syndrome
neonatal aspiration syndrome +
neonatal ichthyosis-sclerosing cholangitis syndrome
nephrogenic diabetes insipidus-intracranial calcification syndrome
nephropathy - deafness - hyperparathyroidism syndrome
nephropathy, chronic tubulointerstitial
nephrosis-deafness-urinary tract-digital malformations syndrome
neurocardiofaciodigital syndrome
neurodegeneration and seizures due to copper transport defect
neurodegeneration with ataxia and late-onset optic atrophy
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
neurodegeneration, infantile-onset, biotin-responsive
neurodevelopmental disorder with absent language and variable seizures
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neurodevelopmental, jaw, eye, and digital syndrome
neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
neuroectodermal melanolysosomal disease
neurofacioskeletal syndrome with or without renal agenesis
neuroleptic malignant syndrome
neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset +
neuromuscular disease and ocular or auditory anomalies with or without seizures
neurooculocardiogenitourinary syndrome
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +
nodular neuronal heterotopia +
nonimmune chronic idiopathic neutropenia of adults
Noonan syndrome with multiple lentigines
O'Donnell-Luria-Rodan syndrome
Obesity Hypoventilation Syndrome
obesity, hyperphagia, and developmental delay
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
obstructive sleep apnea +
oculo-skeletal-renal syndrome
oculoauriculovertebral spectrum with radial defects +
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
oculocerebrorenal syndrome
oculodental syndrome, Rutherfurd type
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis +
oculomotor-abducens synkinesis
oculopharyngeal myopathy with leukoencephalopathy 1
oligodontia-cancer predisposition syndrome
olivopontocerebellar atrophy-deafness syndrome
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
ophthalmomandibulomelic dysplasia
ophthalmoplegia, external, with rib and vertebral anomalies
ornithine translocase deficiency
orofaciodigital syndrome +
orofaciodigital syndrome I
oromandibular-limb anomalies syndrome +
oromandibular-limb hypogenesis syndrome +
osteochondrodysplasia, brachydactyly, and overlapping malformed digits
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteogenesis imperfecta +
osteonecrosis of genetic origin +
osteootohepatoenteric syndrome
osteopenia-intellectual disability-sparse hair syndrome
osteoporosis, childhood- or juvenile-onset, with developmental delay
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
osteoporosis-oculocutaneous hypopigmentation syndrome
osteoporosis-pseudoglioma syndrome
osteosclerosis-ichthyosis-premature ovarian failure syndrome
Other metabolic disease +
otopalatodigital syndrome type 1
ovarian hyperstimulation syndrome
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Pallister-Hall syndrome +
palmoplantar keratoderma-esophageal carcinoma syndrome
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +
pancreatic beta cell agenesis with neonatal diabetes mellitus
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parana hard-skin syndrome
paraneoplastic cutaneous syndrome +
paraneoplastic syndrome +
paraplegia-intellectual disability-hyperkeratosis syndrome
Parathyroid Gland Carcinoma
parkinsonism-dystonia, infantile +
patella aplasia/hypoplasia +
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
periodic fever, immunodeficiency, and thrombocytopenia syndrome
peripheral arterial occlusive disease 1
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peroxisomal beta-oxidation disorder +
peroxisome biogenesis disorder +
peroxisome biogenesis disorder, complementation group 7
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
phosphoribosylaminoimidazole carboxylase deficiency
Pierre Robin syndrome-faciodigital anomaly syndrome
pigment dispersion syndrome
pigmented purpuric eruption
pili torti-developmental delay-neurological abnormalities syndrome
Pitt-Hopkins-like syndrome 2
pituitary stalk interruption syndrome
plasma fibronectin deficiency
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
PMP22-RAI1 contiguous gene duplication syndrome
POLR3A-related disorder +
POLR3B-related disorder +
polycystic ovary syndrome
polydactyly-macrocephaly syndrome
polydactyly-myopia syndrome
polyendocrine-polyneuropathy syndrome
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
porencephaly-microcephaly-bilateral congenital cataract syndrome
post-infectious syndrome +
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
postaxial tetramelic oligodactyly
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
posterior polymorphous corneal dystrophy
premature chromatid separation trait
preterm premature rupture of the membranes
primary ciliary dyskinesia +
primary failure of tooth eruption
primary hypergonadotropic hypogonadism-partial alopecia syndrome
primary hypertrophic osteoarthropathy +
primary immunodeficiency syndrome due to p14 deficiency
primary intraosseous venous malformation
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
primary pigmented nodular adrenocortical disease +
progeria-short stature-pigmented nevi syndrome
progressive deafness with stapes fixation
progressive familial intrahepatic cholestasis +
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive non-infectious anterior vertebral fusion
progressive supranuclear palsy +
prostate cancer, hereditary +
proteinuria, chronic benign
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
Pseudofolliculitis barbae
pseudohyperaldosteronism type 2
pseudoxanthoma elasticum (inherited or acquired) +
ptosis, hereditary congenital, 1
ptosis-strabismus-ectopic pupils syndrome
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ptosis-vocal cord paralysis syndrome
pulmonary alveolar microlithiasis
pulmonary alveolar proteinosis with hypogammaglobulinemia
pulmonary atresia with ventricular septal defect
pulmonary fibrosis and/or bone marrow failure, telomere-related +
pulmonary venoocclusive disease +
pyropoikilocytosis, hereditary
Rabson-Mendenhall syndrome
radial deficiency-tibial hypoplasia syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
radioulnar synostosis-microcephaly-scoliosis syndrome
Rajab interstitial lung disease with brain calcifications +
Rare genetic bone disease +
Rare genetic cardiac disease +
Rare genetic developmental defect during embryogenesis +
Rare genetic disease with myoclonus as a major feature +
Rare genetic endocrine disease +
Rare genetic eye disease +
Rare genetic female infertility +
Rare genetic gastroenterological disease +
Rare genetic hematologic disease +
Rare genetic hepatic disease +
Rare genetic immune disease +
Rare genetic male infertility +
Rare genetic neurological disorder +
Rare genetic odontologic disease +
Rare genetic renal disease +
Rare genetic respiratory disease +
Rare genetic skin disease +
Rare genetic systemic or rheumatologic disease +
Rare genetic urogenital disease +
Rare genetic vascular disease +
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
reflex sympathetic dystrophy
renal cysts and diabetes syndrome
renal-hepatic-pancreatic dysplasia +
respiratory infections, recurrent, and failure to thrive with or without diarrhea
respiratory papillomatosis, juvenile recurrent, congenital
retinal dystrophy and microvillus inclusion disease
retinal dystrophy with or without macular staphyloma
retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
retinitis pigmentosa and erythrocytic microcytosis
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Reunion island Larsen syndrome
rhizomelic limb shortening with dysmorphic features
RNU4ATAC spectrum disorder +
Roberts-SC phocomelia syndrome
Robin sequence-oligodactyly syndrome
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Rubinstein Taybi like syndrome
sandestig-stefanova syndrome
Say-Barber-Miller syndrome
scalp defects-postaxial polydactyly syndrome
Schmid metaphyseal chondrodysplasia
Schnyder corneal dystrophy
Schwartz-Jampel syndrome +
scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
seizures, early-onset, with neurodegeneration and brain calcifications
severe congenital neutropenia +
severe dermatitis-multiple allergies-metabolic wasting syndrome
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
short fifth metacarpals-insulin resistance syndrome
short rib-polydactyly syndrome +
short stature and microcephaly with genital anomalies
short stature due to GHSR deficiency
short stature due to primary acid-labile subunit deficiency
short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
short stature, Brussels type
Short stature, Dauber-Argente type
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies +
short stature, oligodontia, dysmorphic facies, and motor delay
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
shoulder and girdle defects-familial intellectual disability syndrome
shoulder and thorax deformity-congenital heart disease syndrome
Shwachman-Diamond syndrome
sickle cell-beta-thalassemia disease syndrome
sickle cell-hemoglobin c disease syndrome
sickle cell-hemoglobin d disease syndrome
sickle cell-hemoglobin E disease syndrome
Sifrim-Hitz-Weiss syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome +
Simpson-Golabi-Behmel syndrome type 2
skeletal defects, genital hypoplasia, and intellectual disability
skeletal dysplasia and progressive central nervous system degeneration, lethal
skeletal dysplasia, mild, with joint laxity and advanced bone age
skeletal dysplasia-epilepsy-short stature syndrome
skin appendage disorder +
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
spastic ataxia-corneal dystrophy syndrome
spastic paraparesis-deafness syndrome
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
specific granule deficiency
spina bifida-hypospadias syndrome
spinal muscular atrophy, infantile, James type
splenogonadal fusion-limb defects-micrognathia syndrome
split hand-foot malformation +
split-foot malformation-mesoaxial polydactyly syndrome
spondylocostal dysostosis +
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
spondylometaphyseal dysplasia with corneal dystrophy
squalene synthase deficiency
Stankiewicz-Isidor syndrome
structural brain anomalies with impaired intellectual development and craniosynostosis
Stuve-Wiedemann syndrome +
subaortic stenosis-short stature syndrome
subclavian steal syndrome
subcortical band heterotopia +
subcutaneous tissue disorder +
substance withdrawal syndrome +
sudden infant death-dysgenesis of the testes syndrome
Suleiman-El-Hattab syndrome
symphalangism with multiple anomalies of hands and feet
syndactyly-polydactyly-ear lobe syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic agammaglobulinemia +
syndromic congenital sodium diarrhea
syndromic craniosynostosis +
syndromic intellectual disability +
syndromic microphthalmia +
syndromic multisystem autoimmune disease due to ITCH deficiency
syndromic oculocutaneous albinism +
syndromic orbital border hypoplasia
syndromic retinitis pigmentosa
syngnathia multiple anomalies
syngnathia-cleft palate syndrome
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
tall stature-intellectual disability-renal anomalies syndrome
tall stature-scoliosis-macrodactyly of the great toes syndrome
taurodontism, microdontia, and dens invaginatus
Teebi hypertelorism syndrome +
temtamy preaxial brachydactyly syndrome
Tessadori-Van-Haaften neurodevelopmental syndrome +
tethered spinal cord syndrome
tetraamelia-multiple malformations syndrome
thickened earlobes-conductive deafness syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
thoracic outlet syndrome +
thoraco-abdominal enteric duplication
thrombocytopenia, anemia, and myelofibrosis
thrombocytopenia-absent radius syndrome
thrombocytopenia-Robin sequence syndrome
thyrocerebrorenal syndrome
thyroid hormone metabolism, abnormal +
tibial aplasia-ectrodactyly syndrome +
Tolchin-Le Caignec syndrome
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +
tp63-related spectrum disorders
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
transient infantile hypertriglyceridemia and hepatosteatosis
Treacher-Collins syndrome +
trichohepatoneurodevelopmental syndrome
trigonocephaly-short stature-developmental delay syndrome
triokinase and FMN cyclase deficiency syndrome
triphalangeal thumb-polysyndactyly syndrome
tubular renal disease-cardiomyopathy syndrome
ulna hypoplasia-intellectual disability syndrome
ulnar hypoplasia-split foot syndrome
umbilical cord ulceration-intestinal atresia syndrome
urinary bladder, atony of
Usmani-Riazuddin syndrome, autosomal dominant
Usmani-Riazuddin syndrome, autosomal recessive
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL with hydrocephalus +
VACTERL/vater association +
varicella, severe recurrent
ventriculomegaly and arthrogryposis
ventriculomegaly-cystic kidney disease
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral hypersegmentation and orofacial anomalies
vertebral, cardiac, tracheoesophageal, renal, and limb defects
visceral neuropathy, familial +
visual impairment and progressive phthisis bulbi
vitreoretinopathy with phalangeal epiphyseal dysplasia
Waterhouse-Friderichsen syndrome
Weill-Marchesani syndrome +
Wernicke-Korsakoff syndrome
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann-Rautenstrauch syndrome
Wiedemann-Steiner syndrome
Wolcott-Rallison syndrome
woolly hair-skin fragility syndrome
wooly hair, autosomal recessive 3
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
X inactivation, familial skewed +
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked complicated corpus callosum dysgenesis
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked ichthyosis syndrome +
X-linked lissencephaly with abnormal genitalia
X-linked mandibulofacial dysostosis
X-linked spasticity-intellectual disability-epilepsy syndrome
xeroderma pigmentosum-Cockayne syndrome complex +
xerosis and growth failure with immune and pulmonary dysfunction syndrome
Yuksel-Vogel-Bauer syndrome
Zimmermann-Laband syndrome +
zinc deficiency, transient neonatal
|
|
 |
| Synonyms |
| Exact Synonyms: |
DOID:0080720
;
Orphanet:79499
;
http://identifiers.org/medgen/382676
;
http://linkedlifedata.com/resource/umls/id/C2675730
;
https://omim.org/entry/124480
|
| Related Synonyms: |
DDOD
;
Ddod syndrome
;
Robinson Miller Bensimon syndrome
;
deafness and onychodystrophy, dominant form
;
deafness, congenital, and onychodystrophy, autosomal dominant
;
deafness, congenital, with onychodystrophy, autosomal dominant
;
familial ectodermal dysplasia with sensori-neural deafness and other anomalies
|
| Alternate IDs: |
MONDO:0007420
|
| Xrefs: |
DOID:0080720
;
GARD:4732
;
MEDGEN:382676
;
MIM:124480
;
ORDO:79499
;
UMLS:C2675730
|
| see_also: |
https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome" xsd:anyURI {source="GARD:0004732 |
| Definition Sources: |
Orphanet:79499 |
|
