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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disorder +     
ovarian disease +     
syndromic disease +     
17,20-lyase deficiency, isolated 
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete 
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial 
17q11.2 microduplication syndrome 
3-M syndrome 
3MC syndrome +  
46,XX disorder of sex development-anorectal anomalies syndrome 
46,XX sex reversal 1 
46,xx sex reversal 5 
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 
48,XXXY syndrome 
48,XXYY syndrome 
48,XYYY syndrome 
49,XXXXY syndrome 
6q terminal deletion syndrome 
7q11.23 microduplication syndrome +  
8p23.1 microdeletion syndrome 
Aagenaes syndrome 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome 
Abruzzo-Erickson syndrome 
absence deformity of leg-cataract syndrome 
absent radius-anogenital anomalies syndrome 
ACCES syndrome 
acetyl-CoA acetyltransferase-2 deficiency 
achalasia-alacrima syndrome 
Achenbach syndrome 
acrocallosal syndrome 
acrofacial dysostosis +  
acrofrontofacionasal dysostosis 2 
acroleukopathy, symmetric 
acroosteolysis-keloid-like lesions-premature aging syndrome 
Acrootoocular syndrome 
ACTH-independent macronodular adrenal hyperplasia 1 
ACTN3 deficiency 
acute chest syndrome 
acute coronary syndrome  
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 
acute respiratory distress syndrome +   
Adamantinomatous Craniopharyngioma 
Adams-Oliver syndrome 
adenosine triphosphatase deficiency, anemia due to 
Adie syndrome 
adrenal gland disease +   
aganglionosis, total intestinal 
agenesis of corpus callosum, cardiac, ocular, and genital syndrome 
agnathia-otocephaly complex 
Aicardi syndrome 
AKT3-related overgrowth spectrum +  
Al-Gazali syndrome 
Alagille syndrome +  
Alazami-Yuan syndrome 
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 +  
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 
Alstrom syndrome 
alveolar soft part sarcoma +  
amelogenesis imperfecta +  
androgen insensitivity syndrome +  
ANE syndrome 
anemia, hypochromic microcytic with iron overload +  
Angelman syndrome +  
angiokeratoma corporis diffusum with arteriovenous fistulas 
angioosteohypertrophic syndrome 
angioosteohypotrophic syndrome 
anhaptoglobinemia 
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 
ankyloglossia 
anodontia 
anophthalmia plus syndrome 
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 
anovulation 
anterior segment dysgenesis +  
anterior spinal artery syndrome 
antiphospholipid syndrome  
Aortic Coarctation +  
AP-4 deficiency 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 
arcus senilis 
arhinia, choanal atresia, and microphthalmia +  
ariboflavinosis +  
Armfield syndrome 
arterial calcification of infancy +  
arteriovenous malformations of the brain 
arthritis, sacroiliac 
arthrogryposis multiplex congenita +  
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 
arthrogryposis, Perthes disease, and upward gaze palsy 
arthrogryposis-renal dysfunction-cholestasis syndrome +  
Arts 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 
Atelis syndrome +  
atelosteogenesis +  
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 
Atkin-Flaitz 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 disorder of endocrine system +   
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 
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 +   
azoospermia, obstructive, with nephrolithiasis 
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 
BAFopathy +  
Bamforth-Lazarus syndrome 
Baraitser-Winter cerebrofrontofacial syndrome +  
Baralle-Macken syndrome 
Bardet-Biedl syndrome +  
Barre-Lieou syndrome 
Bartter syndrome +  
Basilicata-Akhtar syndrome 
BDV syndrome 
Beck-Fahrner syndrome 
Behcet's syndrome  
Bencze syndrome 
Bernard-Soulier syndrome 
beta thalassemia +  
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 
bipartite talus 
Birbeck granule deficiency 
Birt-Hogg-Dube syndrome +  
bladder diverticulum 
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 
Bloom syndrome 
BNAR syndrome 
bone marrow failure syndrome +  
Bonnemann-Meinecke-Reich syndrome 
Boudin-Mortier syndrome 
brachycephaly, trichomegaly, and developmental delay 
brachydactyly +  
brachydactyly type A2 
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 
branchiootic syndrome 
BRESEK syndrome 
bronchiectasis +   
Brown-Sequard Syndrome 
Bruck syndrome 
Brugada syndrome +   
Bryant-Li-Bhoj neurodevelopmental syndrome +  
bullous dystrophy, macular type 
Buratti-Harel syndrome 
burning mouth syndrome 
Buschke-Ollendorff syndrome 
CADDS 
campomelia, Cumming type 
campomelic dysplasia 
camptodactyly syndrome, Guadalajara +  
Camptosynpolydactyly, complex 
Camurati-Engelmann disease 
capillary infantile hemangioma 
capillary leak syndrome 
capillary malformation-arteriovenous malformation syndrome +  
carcinoid 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 
cardiogenetic disease +   
cardiomyopathy-cataract-hip spine disease syndrome 
Carey-Fineman-Ziter syndrome 
Caroli Disease 
cat-eye syndrome 
cataract +   
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 +  
Catifa syndrome 
Cauda equina syndrome 
caudal duplication 
caudal regression-sirenomelia spectrum +  
causalgia 
cavernous hemangiomas of face-supraumbilical midline raphe syndrome 
CDKL5 disorder +  
CEBALID syndrome 
CEDNIK syndrome 
celiac disease  
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 
cervical spondylosis 
CHAND syndrome 
channelopathy-associated congenital insensitivity to pain, autosomal recessive 
Char syndrome 
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 
CHARGE syndrome 
Chiari malformation +  
Chitayat syndrome 
chitotriosidase deficiency 
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 
choledocholithiasis 
cholestasis-pigmentary retinopathy-cleft palate syndrome 
chondrodysplasia +  
chondrodysplasia-pseudohermaphroditism syndrome 
Chopra-Amiel-Gordon syndrome 
chorea, childhood-onset, with psychomotor retardation 
Christianson syndrome 
Chromosomal anomaly +  
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 
chronic fatigue syndrome  
Chudley-McCullough syndrome 
Churg-Strauss syndrome  
ciliopathy +   
circumscribed cutaneous aplasia of the vertex 
cirrhosis, familial +   
CLAPO syndrome 
clcn4-related disorder 
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 
cloacal exstrophy 
CLOVES syndrome 
cochleosaccular degeneration-cataract syndrome 
cocoon syndrome 
CODAS syndrome 
Coffin-Siris syndrome +  
COG1-congenital disorder of glycosylation 
COG5-congenital disorder of glycosylation 
cognitive impairment with or without cerebellar ataxia 
Cohen-Gibson syndrome 
COL4A1-related disorder +  
Cole-Carpenter syndrome 
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 
combined partial 17-alpha-hydroxylase/17,20-lyase deficiency 
compartment syndrome +  
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 analbuminemia 
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 diarrhea +  
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 laryngeal web 
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 +  
cornea plana +  
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 
Coxa Vara 
Crandall syndrome 
Crane-Heise syndrome 
craniofacial anomalies and anterior segment dysgenesis syndrome 
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 
craniofacial dysplasia - osteopenia syndrome 
craniofacial microsomia  
craniofacial-deafness-hand syndrome 
craniofrontonasal syndrome 
craniolenticulosutural dysplasia 
craniometadiaphyseal osteosclerosis with hip dysplasia 
craniosynostosis +   
Cri-du-chat syndrome 
Crigler-Najjar syndrome +  
cryptorchidism 
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy +  
Currarino triad 
Cushing syndrome +  
cyanosis, transient neonatal +  
cyclic hematopoiesis 
cystic disease of lung 
cystic fibrosis-gastritis-megaloblastic anemia syndrome 
cystinuria +  
Czeizel-Losonci 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 
deeah syndrome 
DEGCAGS syndrome 
delayed puberty, self-limited 
Delpire-McNeill syndrome 
dentin dysplasia type I +  
dentin dysplasia type II 
dentin dysplasia-sclerotic bones syndrome 
dentinogenesis imperfecta type 2 +  
dentinogenesis imperfecta type 3 
Denys-Drash syndrome 
dermochondrocorneal dystrophy 
DeSanto-Shinawi syndrome due to WAC point mutation 
Desbuquois dysplasia +  
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 
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 
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 GNAS inactivation +  
Disorder of lipid metabolism +   
Disorder of porphyrin and haem metabolism +  
Disorder of purine or pyrimidine metabolism +   
Disorder of vitamin and non-protein cofactor absorption and transport  +  
disorders of vitamin D metabolism +  
distal arthrogryposis +  
distal monosomy 10p 
distal monosomy 13q 
distal symphalangism 
distal trisomy 14q 
diverticulosis of bowel, hernia, and retinal detachment 
DK1-congenital disorder of glycosylation 
DNA ligase IV deficiency 
Donohue syndrome 
DOORS syndrome 
double uterus-hemivagina-renal agenesis syndrome 
dry eye syndrome  
Duane retraction syndrome +  
Duane-radial ray syndrome +  
Dubin-Johnson syndrome 
dumping syndrome 
duplication of the pituitary gland 
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 
ear malformation +  
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 
EDICT syndrome 
EEC syndrome +  
Ehlers-Danlos syndrome +  
Eisenmenger syndrome 
Elsahy-Waters syndrome 
Emanuel syndrome 
embryonal rhabdomyosarcoma +  
empty sella syndrome 
EN1-related dorsoventral syndrome +  
endocrine neoplasm +   
endocrine tuberculosis +  
endocrine-cerebro-osteodysplasia syndrome 
enlarged vestibular aqueduct syndrome 
enterocolitis +   
EPHB4-associated vascular malformation spectrum +  
epidermal nevus syndrome 
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 +  
Erdheim-Chester disease 
ermine phenotype 
erythromelalgia +  
essential hypertension, genetic 
euthyroid sick syndrome 
Evans syndrome 
even-plus syndrome 
Ewing sarcoma +   
exercise intolerance, riboflavin-responsive 
exfoliation syndrome  
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 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 hypocalciuric hypercalcemia +  
familial infantile bilateral striatal necrosis 
familial intestinal malrotation-facial anomalies syndrome 
familial long QT syndrome +   
familial male-limited precocious puberty 
familial melanoma 
familial monosomy 7 syndrome +  
familial nonmedullary thyroid carcinoma +  
familial osteodysplasia, Anderson type 
familial osteosclerosis +  
familial ovarian cancer +  
familial pancreatic carcinoma 
familial parathyroid adenoma 
familial polycythemia +  
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 
familial spontaneous pneumothorax 
familial thoracic aortic aneurysm and aortic dissection +  
familial thrombocytosis +  
familial vesicoureteral reflux +  
Fanconi renotubular syndrome +  
Faundes-Banka syndrome 
febrile seizures, familial +  
Feingold syndrome +  
Felty's syndrome 
female athlete triad syndrome 
ferro-cerebro-cutaneous syndrome 
fetal akinesia deformation sequence +  
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 
fetal enterovirus syndrome 
fg syndrome +  
fibrodysplasia ossificans progressiva 
fibromatosis multiple non ossifying 
fibromuscular dysplasia  
fibromuscular dysplasia, multifocal 
fibromyalgia 
fibrosclerosis, multifocal 
fibrosis, neurodegeneration, and cerebral angiomatosis 
fibular aplasia-ectrodactyly syndrome 
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 
Finnish type amyloidosis 
fleck corneal dystrophy 
Floating-Harbor syndrome 
focal epithelial hyperplasia 
focal segmental glomerulosclerosis and neurodevelopmental syndrome 
Follicular Variant Thyroid Gland Papillary Carcinoma 
foveal hypoplasia +  
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 
Fowler syndrome 
fragile X syndrome  
fragile X-associated tremor/ataxia syndrome 
Frank-Ter Haar syndrome 
Fraser syndrome 
Frasier syndrome 
FRAXF syndrome 
Freeman-Sheldon syndrome 
frontofacionasal dysplasia 
frontonasal dysplasia +  
Fryns syndrome 
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 
gastroschisis 
GATA1-Related X-Linked Cytopenia +  
GCGR-related hyperglucagonemia 
gelatinous drop-like corneal dystrophy 
Genetic endocrine tumor +   
Genetic hyperferritinemia without iron overload 
genito-palato-cardiac syndrome 
genitopatellar syndrome 
genitourinary and/or brain malformation syndrome 
German syndrome 
Gilbert syndrome 
gingival fibromatosis-facial dysmorphism syndrome 
GIST-plus syndrome 
Gitelman 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 
glomuvenous malformation 
glucocorticoid therapy, response to 
GMS syndrome 
Goldberg-Shprintzen syndrome 
gonadal agenesis 
gonadal disorder +   
gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 
GRACILE syndrome 
grange syndrome 
Grant syndrome 
granulocytopenia with immunoglobulin abnormality 
gray platelet syndrome 
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 +  
Guttmacher syndrome 
hair defect with photosensitivity and intellectual disability syndrome 
hand-foot-genital syndrome 
hantavirus pulmonary syndrome 
Hartsfield-Bixler-Demyer syndrome 
Hashimoto's thyroiditis  
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 
heart-hand syndrome +  
HELLP syndrome 
hematuria, benign familial +  
hemophagocytic syndrome +  
Hengel-Maroofian-Schols syndrome 
Hennekam syndrome +  
hepatic fibrosis-renal cysts-intellectual disability syndrome 
hepatorenal 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 dementia +   
hereditary disorder of connective tissue +   
hereditary endocrine growth disease +  
hereditary fallopian tube carcinoma 
hereditary gallbladder disorder +   
hereditary gastric cancer +  
hereditary gingival fibromatosis 
hereditary glaucoma +   
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 neutrophilia 
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  
Hirschsprung disease-ganglioneuroblastoma syndrome 
Hirschsprung disease-hearing loss-polydactyly syndrome 
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 
Hirschsprung disease-type D brachydactyly syndrome 
holoprosencephaly +  
holoprosencephaly-postaxial polydactyly syndrome 
Holzgreve-Wagner-Rehder syndrome 
horizontal gaze palsy with progressive scoliosis 
Houge-Janssens syndrome +  
human HOXA1 syndromes +  
humero-radio-ulnar synostosis +  
humerofemoral hypoplasia with radiotibial ray deficiency 
humeroradial synostosis +  
humerus trochlea aplasia 
Huppke-Brendel syndrome 
Hurler syndrome 
Hurler-Scheie syndrome 
Hutchinson-Gilford progeria syndrome 
Hydatidiform Mole +  
hydrocephalus-blue sclerae-nephropathy syndrome 
hydrocephalus-obesity-hypogonadism syndrome 
hydrocephaly-cerebellar agenesis syndrome 
hydroxyprolinemia 
hyperbiliverdinemia 
Hypereosinophilic syndrome +  
hypergonadotropic hypogonadism-cataract syndrome 
hyperinsulinemic hypoglycemia +  
hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 
hyperopia, high 
hyperostosis cranialis interna 
hyperpigmentation of eyelid 
hyperproinsulinemia 
hypersensitivity pneumonitis, familial 
hypersulfaturia 
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 
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia 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  
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 +  
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 
IFAP syndrome +  
IgE responsiveness, atopic 
Imagawa-Matsumoto syndrome 
IMAGe 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 cutis laxa +  
inherited deficiency anemia +  
inherited hemoglobinopathy +   
inherited hypertrophic pyloric stenosis +  
inherited isolated nail anomaly +  
inherited kidney disorder +   
inherited obesity +  
inherited oocyte maturation defect +  
inherited primary ovarian failure +  
inherited pseudoxanthoma elasticum +  
inherited sideroblastic anemia +  
inherited thrombocytopenia +   
inosine triphosphatase deficiency 
insulin-resistance syndrome type A 
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 
IRF6-related condition +  
iridocorneal endothelial syndrome +  
irritable bowel syndrome  
ischio-vertebral syndrome 
islet cell adenomatosis +  
isolated aniridia 
isolated congenital breast hypoplasia/aplasia +  
isolated cryptophthalmia +  
isolated hyperferritinemia 
isolated microphthalmia +  
isolated thyrotropin-releasing hormone deficiency 
IVIC syndrome 
Jaberi-Elahi syndrome 
Jacobsen syndrome 
Jalili syndrome 
jaw-winking syndrome +  
Jawad syndrome 
joint contractures, osteochondromas, and B-cell lymphoma 
joint laxity, short stature, and myopia 
Joubert syndrome +  
Joubert syndrome with ocular defect 
Joubert syndrome with oculorenal defect +  
Juberg-Hayward syndrome 
juvenile arthritis due to defect in LACC1 
Kabuki syndrome 
kallikrein, decreased urinary activity of 
Kallmann syndrome +  
Karsch-Neugebauer syndrome 
Kartagener Syndrome 
Kaya-Barakat-Masson syndrome 
Kearns-Sayre syndrome 
Keipert syndrome 
Kenny-Caffey syndrome +  
keratitis fugax hereditaria 
keratoconus +   
keratoderma hereditarium mutilans 
keratosis follicularis-dwarfism-cerebral atrophy syndrome 
Khan-Khan-Katsanis syndrome 
Kilquist syndrome 
KINSSHIP syndrome 
Kleefstra syndrome +  
Kleine-Levin Syndrome 
Klinefelter's syndrome 
Klippel-Feil syndrome +  
Kluver-Bucy syndrome 
Kohlschutter-Tonz syndrome-like 
Koolen-de Vries syndrome +  
Kury-Isidor syndrome 
L-ferritin deficiency 
laminopathy +  
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 
Laurence-Moon syndrome 
left ventricular noncompaction +  
left-right axis malformations 
Lennox-Gastaut syndrome +  
Lenz-Majewski hyperostotic dwarfism 
Lesch-Nyhan syndrome 
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 +  
Leydig cell hypoplasia, type 1 +  
Leydig Cell Tumor +  
Li-Campeau syndrome 
Li-Ghorbani-Weisz-Hubshman syndrome 
Liang-Wang syndrome 
Liberfarb syndrome 
Liddle syndrome +  
limb transversal defect-cardiac anomaly syndrome 
linkeropathy +  
Lisch epithelial corneal dystrophy 
liver disease +   
liver disease, severe congenital 
Loeys-Dietz syndrome +  
Long-Olsen-Distelmaier syndrome 
Lopes-Maciel-Rodan syndrome 
Lowe-Kohn-Cohen syndrome 
lower limb deficiency-hypospadias syndrome 
Lown-Ganong-Levine syndrome 
LTBP2-related ocular dysgenesis +  
Lui-Jee-Baron syndrome 
lumbar disc degeneration +   
lung agenesis-heart defect-thumb anomalies syndrome 
lung disease, immunodeficiency, and chromosome breakage syndrome; 
Luo-Schoch-Yamamoto syndrome 
Luscan-Lumish syndrome 
lymphatic malformation +  
lymphedema-atrial septal defects-facial changes syndrome 
lymphedema-cerebral arteriovenous anomaly syndrome 
lymphedema-distichiasis syndrome 
lymphedema-posterior choanal atresia syndrome 
Lysosomal disease +  
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 
Marfan syndrome +  
Marinesco-Sjogren syndrome 
Marshall-Smith syndrome 
Mauriac syndrome 
Mayer-Rokitansky-Kuster-Hauser syndrome +  
Mazabraud syndrome 
mbd5 associated neurodevelopmental disorder 
McCune-Albright syndrome 
Meacham syndrome 
Meckel syndrome +  
Meckel's diverticulum 
MEDNIK syndrome 
Meesmann corneal dystrophy +  
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 
megacystis-microcolon-intestinal hypoperistalsis syndrome +  
megalencephaly-polydactyly syndrome 
megalocornea +  
megalodactyly 
Meier-Gorlin syndrome 
MELAS syndrome 
Melhem-Fahl syndrome 
Melkersson-Rosenthal syndrome 
Mendelian encephalopathy +  
Menke-Hennekam syndrome 
Menke-Hennekam syndrome 1 
Menke-Hennekam syndrome 2 
Menkes disease 
menstrual cycle-dependent periodic fever 
Menstrual disorder +   
MERRF syndrome 
mesomelic dwarfism-cleft palate-camptodactyly syndrome 
metachondromatosis 
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 
Mietens syndrome 
Mikati-Najjar-Sahli syndrome 
miliaria +  
Miller Fisher syndrome 
Miller-Dieker lissencephaly syndrome 
MIRAGE 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 
Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma 
Mobius syndrome +  
MOMO syndrome 
monosomy 13q34 
MORM syndrome 
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 +  
mulibrey nanism 
Mullegama-Klein-Martinez syndrome 
mullerian aplasia and hyperandrogenism 
mullerian derivatives-lymphangiectasia-polydactyly syndrome 
mullerian duct anomalies-limb anomalies syndrome 
multinodular goiter +   
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 
Mungan 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 27 
myopia 28, autosomal recessive 
myopia 6 
myostatin-related muscle hypertrophy 
myotonic syndrome +  
N-acetylaspartate deficiency 
Nager acrofacial dysostosis 
nail-patella syndrome 
Nance-Horan syndrome 
nanophthalmia +  
nasopalpebral lipoma-coloboma syndrome 
Nathalie syndrome 
neonatal aspiration syndrome +  
neonatal ichthyosis-sclerosing cholangitis syndrome 
neoplastic syndrome +   
nephrogenic diabetes insipidus-intracranial calcification syndrome 
nephronophthisis 1 
nephropathy - deafness - hyperparathyroidism syndrome 
nephropathy, chronic tubulointerstitial 
nephrosis-deafness-urinary tract-digital malformations syndrome 
nephrotic syndrome +   
Netherton syndrome 
Neu-Laxova 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 
neuroendocrine disorder +  
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 
Nizon-Isidor syndrome 
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +  
nodular neuronal heterotopia +  
Non-acquired premature ovarian failure +  
Non-Neoplastic Bile Duct Disorder +   
nonimmune chronic idiopathic neutropenia of adults 
Noonan syndrome +  
Noonan syndrome with multiple lentigines 
Norman-Roberts syndrome 
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 
oculotrichoanal syndrome 
Okt4 epitope deficiency 
oligodontia-cancer predisposition syndrome 
olivopontocerebellar atrophy-deafness syndrome 
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 
oophoritis +  
ophthalmomandibulomelic dysplasia 
ophthalmoplegia, external, with rib and vertebral anomalies 
Opitz G/BBB syndrome +  
ornithine translocase deficiency 
orofacial cleft +   
orofaciodigital syndrome +  
orofaciodigital syndrome I 
oromandibular-limb anomalies syndrome +  
oromandibular-limb hypogenesis syndrome +  
osteitis deformans +   
osteochondrodysplasia, brachydactyly, and overlapping malformed digits 
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 
osteogenesis imperfecta +   
osteoglophonic dwarfism 
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 dysfunction +   
Ovarian Endometriosis 
ovarian hyperstimulation syndrome 
ovarian neoplasm +   
ovary atrophy 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 
Paganini-Miozzo syndrome 
PAGOD syndrome 
palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 
palindromic rheumatism 
Pallister-Hall syndrome +  
Pallister-W syndrome 
palmoplantar keratoderma-esophageal carcinoma syndrome 
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +  
pancreas disease +   
pancreatic agenesis +  
pancreatic beta cell agenesis with neonatal diabetes mellitus 
pancreatic hypoplasia-diabetes-congenital heart disease syndrome 
Papillary Craniopharyngioma 
Papillary Tumor of the Pineal Region 
Parana hard-skin syndrome 
paraneoplastic syndrome +  
paraplegia-intellectual disability-hyperkeratosis syndrome 
parathyroid disease +   
Parathyroid Gland Carcinoma 
parkinsonism-dystonia, infantile +  
parneoplastic endocrine syndrome +  
patella aplasia/hypoplasia +  
pathological gambling  
PCWH syndrome 
Pearson syndrome 
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
PEHO syndrome 
pellagra-like syndrome 
pelvis syndrome 
Pendred syndrome 
pentasomy X 
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 
Perlman syndrome 
pernicious anemia  
Peroxisomal beta-oxidation disorder +  
peroxisome biogenesis disorder +  
peroxisome biogenesis disorder, complementation group 7 
Perry syndrome 
persian gulf syndrome 
Peters plus syndrome 
Phelan-McDermid syndrome 
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 
phosphohydroxylysinuria 
phosphoribosylaminoimidazole carboxylase deficiency 
Pierre Robin syndrome-faciodigital anomaly syndrome 
pigment dispersion syndrome  
pigmented purpuric eruption 
pili torti-developmental delay-neurological abnormalities syndrome 
Pilotto syndrome 
Pitt-Hopkins syndrome 
Pitt-Hopkins-like syndrome 2 
pituitary deficiency +  
pituitary gland disease +   
pituitary stalk interruption syndrome 
plasma fibronectin deficiency 
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 
PMP22-RAI1 contiguous gene duplication syndrome 
Poland syndrome 
POLR3A-related disorder +  
POLR3B-related disorder +  
polycystic ovary syndrome  
A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.
polydactyly +  
polydactyly-macrocephaly syndrome 
polydactyly-myopia syndrome 
polyendocrine-polyneuropathy syndrome 
polyendocrinopathy +  
polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 
polymyalgia rheumatica 
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 
Poorly Differentiated Thyroid Gland Carcinoma +  
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 
Potocki-Lupski syndrome 
Potocki-Shaffer syndrome 
Prader-Willi syndrome +  
preeclampsia +   
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 +  
Primrose syndrome 
progeria +  
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 +  
protein Z deficiency 
proteinuria, chronic benign 
Proteus syndrome 
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 
prune belly syndrome 
Pseudofolliculitis barbae 
pseudohyperaldosteronism type 2 
psoriatic arthritis +   
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 
Qazi Markouizos syndrome 
Rabson-Mendenhall syndrome 
radial deficiency-tibial hypoplasia syndrome 
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 
radio-renal syndrome 
Radio-Tartaglia syndrome 
radioulnar synostosis-microcephaly-scoliosis syndrome 
Rajab interstitial lung disease with brain calcifications +  
Ramon syndrome 
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 
Rare female infertility due to an anomaly of ovarian function of genetic origin +  
Rare genetic bone disease +   
Rare genetic cardiac disease +  
Rare genetic deafness +  
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 tumor +   
Rare genetic urogenital disease +  
Rare genetic vascular disease +  
rasopathy +  
Rauch-Steindl syndrome 
Raynaud disease  
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 
recombinant 8 syndrome 
RECON progeroid syndrome 
reflex sympathetic dystrophy 
renal coloboma syndrome 
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 
restrictive dermopathy +  
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 89 
retinitis pigmentosa and erythrocytic microcytosis 
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 
Rett syndrome 
Reunion island Larsen syndrome 
Reye syndrome 
Reynolds syndrome 
rhizomelic limb shortening with dysmorphic features 
RHYNS syndrome 
ring chromosome 10 
ring chromosome 13 
ring dermoid of cornea 
RNU4ATAC spectrum disorder +  
Roberts-SC phocomelia syndrome 
Robin sequence-oligodactyly syndrome 
Robinow syndrome +  
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 
Rombo syndrome 
Roussy-Levy syndrome 
Rubinstein Taybi like syndrome 
Ruvalcaba syndrome 
ryr1-related disorders 
sandestig-stefanova syndrome 
Say-Barber-Miller syndrome 
scalp defects-postaxial polydactyly syndrome 
SCARF syndrome 
Scheie syndrome 
Schilbach-Rott syndrome 
Schmid metaphyseal chondrodysplasia 
Schnyder corneal dystrophy 
Schwartz-Jampel syndrome +  
scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 
scimitar syndrome 
sclerosteosis +  
SEC61A1 deficiency +  
Seckel syndrome +  
seizures, early-onset, with neurodegeneration and brain calcifications 
septooptic dysplasia 
serpinopathy +  
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 
Shashi-Pena syndrome 
shone complex 
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 
SHORT syndrome 
shoulder and girdle defects-familial intellectual disability syndrome 
shoulder and thorax deformity-congenital heart disease syndrome 
Shukla-Vernon syndrome 
Shwachman-Diamond syndrome 
sick sinus 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 
Siddiqi syndrome 
Sifrim-Hitz-Weiss syndrome 
Sillence syndrome 
Silver-Russell syndrome +  
Simpson-Golabi-Behmel syndrome +  
Simpson-Golabi-Behmel syndrome type 2 
Sjogren syndrome  
skeletal defects, genital hypoplasia, and intellectual disability 
skeletal dysplasia +   
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 fragility-woolly hair-palmoplantar keratoderma syndrome 
Skraban-Deardorff syndrome 
Snijders Blok-Campeau syndrome 
Snijders Blok-Fisher syndrome 
Sotos syndrome 
spastic ataxia-corneal dystrophy syndrome 
spastic paraparesis-deafness syndrome 
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 
specific granule deficiency 
spina bifida +  
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 
spondylolisthesis  
spondylometaphyseal dysplasia with corneal dystrophy 
squalene synthase deficiency 
stag1-related disorder 
Stankiewicz-Isidor syndrome 
STAT3 gain of function 
Stevens-Johnson syndrome  
Stickler syndrome +  
Stiff-Person syndrome 
structural brain anomalies with impaired intellectual development and craniosynostosis 
Stuve-Wiedemann syndrome +  
subaortic stenosis-short stature syndrome 
subclavian steal syndrome 
subcortical band heterotopia +  
substance withdrawal syndrome +   
sudden infant death-dysgenesis of the testes syndrome 
Suleiman-El-Hattab syndrome 
Susac Syndrome 
sweet syndrome 
symphalangism with multiple anomalies of hands and feet 
syndactyly +  
syndactyly-polydactyly-ear lobe syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome 
syndromic agammaglobulinemia +   
syndromic congenital sodium diarrhea 
syndromic craniosynostosis +  
syndromic dyslipidemia +   
syndromic intellectual disability +  
syndromic lymphedema 
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 
T-substance anomaly 
Takayasu arteritis  
tall stature-intellectual disability-renal anomalies syndrome 
tall stature-scoliosis-macrodactyly of the great toes syndrome 
Tan-Almurshedi syndrome 
tarsal tunnel syndrome 
taurodontism 
taurodontism, microdontia, and dens invaginatus 
Teebi hypertelorism syndrome +  
teeth, supernumerary 
temtamy preaxial brachydactyly syndrome 
temtamy syndrome 
Tenorio syndrome 
Tessadori-Van-Haaften neurodevelopmental syndrome +  
tethered spinal cord syndrome 
tetraamelia-multiple malformations syndrome 
tetramelic monodactyly 
tetrasomy 12p 
tetrasomy 18p 
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 
thymoma, familial 
thymus gland disorder +  
thymus hyperplasia 
thyrocerebrorenal syndrome 
thyroid disease +   
Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma 
Thyroid Gland Oncocytic Follicular Carcinoma 
thyroid hormone metabolism, abnormal +  
tibial aplasia-ectrodactyly syndrome +  
Tietze syndrome  
Tolchin-Le Caignec syndrome 
Tolosa-Hunt syndrome 
tooth agenesis +   
tooth ankylosis 
torticollis-keloids-cryptorchidism-renal dysplasia syndrome 
Tourette syndrome  
Townes-Brocks syndrome 
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +  
tp63-related spectrum disorders 
TRAF3 haploinsufficiency 
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 
transient infantile hypertriglyceridemia and hepatosteatosis 
Treacher-Collins syndrome +  
trichilemmal cyst 
trichohepatoneurodevelopmental syndrome 
trichomegaly 
trichotillomania 
trigonocephaly-short stature-developmental delay syndrome 
triokinase and FMN cyclase deficiency syndrome 
triphalangeal thumb-polysyndactyly syndrome 
triple-A syndrome 
trisomy 13 +  
trisomy 18 +  
trisomy X 
trypsinogen deficiency 
tubular renal disease-cardiomyopathy syndrome 
Turner syndrome +  
turnpenny-fry syndrome 
type 2 collagenopathy +  
ulna hypoplasia-intellectual disability syndrome 
ulnar hypoplasia-split foot syndrome 
ulnar-mammary syndrome 
umbilical cord ulceration-intestinal atresia syndrome 
Upington disease 
ureterocele 
urinary bladder, atony of 
Usher syndrome +  
Usmani-Riazuddin syndrome, autosomal dominant 
Usmani-Riazuddin syndrome, autosomal recessive 
uveal coloboma-cleft lip and palate-intellectual disability 
VACTERL with hydrocephalus +  
VACTERL/vater association +  
van den Bosch syndrome 
van der Woude syndrome 1 
van Maldergem syndrome +  
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 
Vici syndrome 
visceral heterotaxy +  
visceral Leishmaniasis  
visceral myopathy 1 +  
visceral neuropathy, familial +  
VISS syndrome 
Vissers-Bodmer syndrome 
visual impairment and progressive phthisis bulbi 
vitreoretinopathy with phalangeal epiphyseal dysplasia 
volvulus of midgut +  
Waardenburg syndrome +  
Warburg-Cinotti syndrome 
Warsaw breakage syndrome 
Waterhouse-Friderichsen syndrome 
Weaver syndrome 
Webb-Dattani syndrome 
Weill-Marchesani syndrome +  
Weiss-Kruszka syndrome 
Werner syndrome 
Wernicke-Korsakoff syndrome 
West syndrome +  
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 
White-Kernohan syndrome 
Wiedemann-Rautenstrauch syndrome 
Wiedemann-Steiner syndrome 
Wildervanck syndrome 
Williams syndrome 
Wissler's syndrome 
Wolcott-Rallison syndrome 
Wolf-Hirschhorn syndrome 
Wolfram syndrome 
Wolfram-like 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 corneal dermoid 
X-linked disease +  
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 
XFE progeroid syndrome 
Yao syndrome 
Yellow Nail Syndrome 
Yuksel-Vogel-Bauer syndrome 
Yunis-Varon syndrome 
Zaki syndrome 
Zimmermann-Laband syndrome +  
zinc deficiency, transient neonatal 
zinc, elevated plasma +  

Synonyms
Exact Synonyms: Cystic disease of ovaries ;   DOID:11612 ;   Multicystic ovaries ;   NCIT:C26862 ;   Ovarian Syndromes, Polycystic ;   PCO - Polycystic ovaries ;   PCOD - Polycystic ovarian disease ;   PCOS - Polycystic ovarian syndrome ;   Polycystic ovarian disease ;   Polycystic ovarian syndrome
Related Synonyms: PCOS1 ;   Pco1 ;   Pcos ;   hyperandrogenemia ;   polycystic ovary syndrome 1
Xrefs: DOID:11612 ;   HP:0000147 ;   ICD9:256.4 ;   MEDGEN:10836 ;   MESH:D011085 ;   MIM:184700 ;   MONDO:0008487 ;   NANDO:2100149 ;   NANDO:2200409 ;   NCI:C26862
External Ontologys: has_disease_location EFO:UBERON:0000992
Definition Sources: NCIT:P378

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