Parent term(s)
Term with siblings
3-M syndrome
3MC syndrome +
Aagenaes syndrome
Aarskog syndrome +
ABCD syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
Achard syndrome
achondrogenesis type IA
acrocallosal syndrome
acrocardiofacial syndrome
acromesomelic dysplasia, Maroteaux type
acrorenal syndrome
Adams-Oliver syndrome
Adie syndrome
ADULT syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agnathia-otocephaly complex
Aicardi syndrome
Aicardi-Goutieres syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome +
alpha-thalassemia myelodysplasia syndrome
Alport syndrome +
Alstrom syndrome
AMED syndrome
AMME complex
Angelman syndrome
ankylosing spondylitis +
anterior spinal artery syndrome
Antley-Bixler syndrome with disordered steroidogenesis
aplasia of lacrimal and salivary glands
ARC syndrome +
arthrogryposis multiplex congenita +
atelosteogenesis
autoimmune interstitial lung, joint, and kidney disease
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant osteopetrosis 2
autosomal recessive congenital ichthyosis +
Ayme-Gripp syndrome
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome +
Barber-Say syndrome
Bardet-Biedl syndrome +
Barre-Lieou syndrome
Bart-Pumphrey syndrome
basilar artery insufficiency
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Beemer-Langer syndrome
Birk-Barel syndrome
Bjornstad syndrome
bladder exstrophy-epispadias-cloacal exstrophy complex +
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis-impaired intellectual development syndrome
Bloom syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
branchiooculofacial syndrome
branchiootic syndrome
branchiootorenal syndrome +
breast implant illness
Brown-Vialetto-Van Laere syndrome +
Bruck syndrome
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
C syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carey-Fineman-Ziter syndrome
Carney complex
Carney-Stratakis syndrome
Caroli syndrome
Cauda equina syndrome
caudal regression syndrome
CEDNIK syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
cerebellofaciodental syndrome
cerebrocostomandibular syndrome
CHARGE syndrome
Chediak-Higashi syndrome
CHILD syndrome
CHIME syndrome
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
chronic atrial and intestinal dysrhythmia
chronic fatigue syndrome
chronic recurrent multifocal osteomyelitis
ciliopathy +
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleft palate-lateral synechia syndrome
CLOVES syndrome
COACH syndrome
Cockayne syndrome +
CODAS syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome +
Cohen syndrome
cold-induced sweating syndrome +
Compton-North congenital myopathy
congenital adrenal hyperplasia
congenital adrenal insufficiency
congenital afibrinogenemia
congenital amegakaryocytic thrombocytopenia +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital aphakia
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia
congenital diarrhea +
congenital disorder of glycosylation +
congenital epulis
congenital fibrosarcoma
congenital fibrosis of the extraocular muscles +
congenital generalized lipodystrophy +
congenital granular cell tumor
congenital heart block
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital megabladder
congenital mesoblastic nephroma +
congenital mirror movement disorder
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital myopathy 4A +
congenital nervous system abnormality +
congenital nystagmus +
congenital ptosis
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
congenital syphilis +
congenital toxoplasmosis
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
cranioectodermal dysplasia +
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
CREST syndrome
Cri-Du-Chat syndrome
Crouzon syndrome-acanthosis nigricans syndrome
cryptophthalmia +
Culler-Jones syndrome
Currarino syndrome
cystic fibrosis
deafness, dystonia, and cerebral hypomyelination
Denys-Drash syndrome
DeSanto-Shinawi syndrome
developmental cardiac valvular defect
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
dialysis disequilibrium syndrome
DICER1 syndrome
diffuse infiltrative lymphocytosis syndrome
DiGeorge syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
dominant optic atrophy plus syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
dropped head syndrome
Duane-radial ray syndrome
Dubowitz syndrome
dysplastic nevus syndrome
EAST syndrome
ectodermal dysplasia +
EEC syndrome +
Ellis-Van Creveld syndrome
Elsahy-Waters syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 1
encephalopathy due to defective mitochondrial and peroxisomal fission 2
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex with muscular dystrophy
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Fanconi-like syndrome
Feingold syndrome
Felty's syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
fetal valproate syndrome
FG syndrome
fibrogenesis imperfecta ossium
fibromyalgia
Filippi syndrome
Floating-Harbor syndrome
focal dermal hypoplasia
fragile X syndrome
Fraser syndrome +
Frasier syndrome
frontonasal dysplasia +
Fuchs' heterochromic uveitis
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GAPO syndrome
gastroschisis
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Gillespie syndrome
Goldberg-Shprintzen syndrome
Goldenhar syndrome
Gorham's disease
growth hormone insensitivity syndrome with immune dysregulation 1
growth hormone insensitivity syndrome with immune dysregulation 2
Guttmacher syndrome
Hallermann-Streiff syndrome
Halperin-Birk syndrome
hand-foot-genital syndrome
Harel-Yoon syndrome
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome
hereditary breast ovarian cancer syndrome
hereditary desmoid disease
Hermansky-Pudlak syndrome +
high myopia-sensorineural deafness syndrome
histiocytosis-lymphadenopathy plus syndrome
holoprosencephaly +
Holt-Oram syndrome
Holzgreve-Wagner-Rehder Syndrome
hydrolethalus syndrome +
hyperferritinemia-cataract syndrome
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatasia +
hypoplastic or aplastic tibia with polydactyly
hypospadias
hypotonia, ataxia, and delayed development syndrome
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
IMAGe syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
imperforate anus
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile liver failure syndrome +
intellectual developmental disorder with cardiac arrhythmia
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability and myopathy syndrome
IVIC syndrome
Jackson-Weiss syndrome
Jalili syndrome
Johanson-Blizzard syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kabuki syndrome
Kagami-Ogata syndrome
Kahrizi syndrome
KBG syndrome
KBG syndrome
Keipert syndrome
Kenny-Caffey syndrome +
KINSSHIP syndrome
Kleefstra syndrome +
Klippel-Trenaunay syndrome
Kohlschutter-Tonz syndrome
Koolen de Vries syndrome
kyphosis +
LADD syndrome +
large congenital melanocytic nevus
Laron syndrome
Larsen syndrome
Larsen-like syndrome B3GAT3 type
laryngomalacia
lateral meningocele syndrome
Laurence-Moon syndrome
Leber congenital amaurosis +
Leber plus disease +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
Li-Fraumeni syndrome +
linear nevus sebaceous syndrome
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
Loeys-Dietz syndrome +
Lown-Ganong-Levine syndrome
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
Maffucci syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis, Guion-Almeida type
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
Marsili syndrome
Martsolf syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McCune Albright syndrome
McKusick-Kaufman syndrome
Meckel's diverticulum
median arcuate ligament syndrome
MEDNIK syndrome
Meester-Loeys syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Meier-Gorlin syndrome +
melanoma and neural system tumor syndrome
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly-micromelia syndrome
microphthalmia with limb anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miller-Dieker lissencephaly syndrome
mismatch repair cancer syndrome
MLS syndrome +
mosaic variegated aneuploidy syndrome +
Mowat-Wilson syndrome
Muckle-Wells syndrome
Mulchandani-Bhoj-Conlin syndrome
mulibrey nanism
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple endocrine neoplasia +
multiple epiphyseal dysplasia with myopia and deafness
myotonia congenita +
N syndrome
nail-patella syndrome
Nance-Horan syndrome
Nasu-Hakola disease
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neural tube defect +
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with hypotonia and speech delay
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome +
NFIA-related disorder
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome
non-congenital cyst of kidney
nonsyndromic congenital nail disorder +
Norrie disease
oculoauricular syndrome
oculocerebrorenal syndrome
oculocutaneous albinism +
oculodentodigital dysplasia
Ogden syndrome
Ohdo syndrome +
Oliver-McFarlane syndrome
Ollier disease
omphalocele
Opitz GBBB syndrome
orofacial cleft +
orofacial cleft +
orofaciodigital syndrome +
osteoporosis-pseudoglioma syndrome
overactive bladder syndrome
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PAPA syndrome
PCWH syndrome
Pendred Syndrome
Perlman syndrome
Perrault syndrome +
Perry syndrome
persian gulf syndrome
Peters plus syndrome
PHARC syndrome
Pierson syndrome
Pitt-Hopkins syndrome
plasminogen deficiency type I
Poland syndrome
polydactyly +
polyhydramnios, megalencephaly, and symptomatic epilepsy
popliteal pterygium syndrome
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
Potocki-Shaffer syndrome
Prader-Willi syndrome
primary congenital glaucoma +
primary hypertrophic osteoarthropathy
progeroid syndrome +
progressive osseous heteroplasia
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
proximal symphalangism +
prune belly syndrome
pseudo-TORCH syndrome 1
PTEN hamartoma tumor syndrome +
Qazi Markouizos syndrome
radioulnar synostosis
rapadilino syndrome
rapidly involuting congenital hemangioma
RASopathy +
renal coloboma syndrome
renal-hepatic-pancreatic dysplasia
Reye syndrome
rhabdoid tumor predisposition syndrome +
RIDDLE syndrome
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome +
Roberts syndrome
Robinow syndrome +
Rubinstein-Taybi syndrome
Ruijs-Aalfs syndrome
SADDAN
salt and pepper syndrome
Sandestig-Stefanova syndrome
SAPHO syndrome
SATB2-associated syndrome
Schaaf-Yang syndrome
Scheuermann's disease
Schinzel type phocomelia
Schwartz-Jampel syndrome 1
scoliosis +
Seckel syndrome +
Senior-Loken syndrome
septooptic dysplasia
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT syndrome
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
Silver-Russell syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson syndrome
Sotos syndrome +
spinal chordoma +
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis +
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia with congenital joint dislocations
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylolisthesis
spondylolysis
spondylosis
Stickler syndrome +
Stolerman neurodevelopmental syndrome
subclavian steal syndrome
sudden infant death syndrome
Sweeney-Cox syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TANGO2-related metabolic encephalopathy and arrythmias
TARP syndrome
Teebi hypertelorism syndrome +
Temple syndrome
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
terminal osseous dysplasia
tetraamelia syndrome +
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
Tietz syndrome
Timothy syndrome
tooth and nail syndrome
TORCH syndrome
TORCH syndrome
Townes-Brocks syndrome
Treacher Collins syndrome +
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
trichothiodystrophy +
triple-A syndrome
tuberous sclerosis +
ulnar-mammary syndrome
urofacial syndrome
Uruguay faciocardiomusculoskeletal syndrome
Usher syndrome +
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL association +
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van Maldergem syndrome +
ventriculomegaly - cystic kidney disease
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency
vertebral hypersegmentation and orofacial anomalies
VEXAS syndrome
Vici syndrome
visceral heterotaxy +
Vissers-Bodmer syndrome
Vohwinkel syndrome
Waardenburg syndrome +
Waisman syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Weaver syndrome
Weill-Marchesani syndrome
Williams-Beuren syndrome
Winchester syndrome
Wiskott-Aldrich syndrome
Wissler-Fanconi syndrome
Wolcott-Rallison syndrome
Wolfram syndrome +
Woodhouse-Sakati syndrome
wrinkly skin syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked spondyloepiphyseal dysplasia tarda
xeroderma pigmentosum +
yellow nail syndrome
Yoon-Bellen neurodevelopmental syndrome
Yunis-Varon syndrome
Zaki syndrome
Zika virus congenital syndrome
Zika virus congenital syndrome
Zollinger-Ellison syndrome
ZTTK syndrome
Klippel-Feil syndrome +
3-M syndrome
3MC syndrome +
Aagenaes syndrome
Aarskog syndrome +
ABCD syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
Achard syndrome
achondrogenesis type IA
acrocallosal syndrome
acrocardiofacial syndrome
acromesomelic dysplasia, Maroteaux type
acrorenal syndrome
Adams-Oliver syndrome
Adie syndrome
ADULT syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
agnathia-otocephaly complex
Aicardi syndrome
Aicardi-Goutieres syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome +
alpha-thalassemia myelodysplasia syndrome
Alport syndrome +
Alstrom syndrome
AMED syndrome
AMME complex
Angelman syndrome
ankylosing spondylitis +
anterior spinal artery syndrome
Antley-Bixler syndrome with disordered steroidogenesis
aplasia of lacrimal and salivary glands
ARC syndrome +
arthrogryposis multiplex congenita +
atelosteogenesis
autoimmune interstitial lung, joint, and kidney disease
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant osteopetrosis 2
autosomal recessive congenital ichthyosis +
Ayme-Gripp syndrome
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome +
Barber-Say syndrome
Bardet-Biedl syndrome +
Barre-Lieou syndrome
Bart-Pumphrey syndrome
basilar artery insufficiency
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Beemer-Langer syndrome
Birk-Barel syndrome
Bjornstad syndrome
bladder exstrophy-epispadias-cloacal exstrophy complex +
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis-impaired intellectual development syndrome
Bloom syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
branchiooculofacial syndrome
branchiootic syndrome
branchiootorenal syndrome +
breast implant illness
Brown-Vialetto-Van Laere syndrome +
Bruck syndrome
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
C syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carey-Fineman-Ziter syndrome
Carney complex
Carney-Stratakis syndrome
Caroli syndrome
Cauda equina syndrome
caudal regression syndrome
CEDNIK syndrome
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
cerebellofaciodental syndrome
cerebrocostomandibular syndrome
CHARGE syndrome
Chediak-Higashi syndrome
CHILD syndrome
CHIME syndrome
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
chronic atrial and intestinal dysrhythmia
chronic fatigue syndrome
chronic recurrent multifocal osteomyelitis
ciliopathy +
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleft palate-lateral synechia syndrome
CLOVES syndrome
COACH syndrome
Cockayne syndrome +
CODAS syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome +
Cohen syndrome
cold-induced sweating syndrome +
Compton-North congenital myopathy
congenital adrenal hyperplasia
congenital adrenal insufficiency
congenital afibrinogenemia
congenital amegakaryocytic thrombocytopenia +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital aphakia
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome
congenital chylothorax
congenital contractural arachnodactyly
congenital diaphragmatic hernia
congenital diarrhea +
congenital disorder of glycosylation +
congenital epulis
congenital fibrosarcoma
congenital fibrosis of the extraocular muscles +
congenital generalized lipodystrophy +
congenital granular cell tumor
congenital heart block
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital heart disease +
congenital hemolytic anemia +
congenital hereditary endothelial dystrophy of cornea
congenital hypogammaglobulinemia
congenital hypoplastic anemia +
congenital hypothyroidism +
congenital hypotrichosis with juvenile macular dystrophy
congenital intrinsic factor deficiency
congenital lactase deficiency
congenital leptin deficiency
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital megabladder
congenital mesoblastic nephroma +
congenital mirror movement disorder
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital myopathy 4A +
congenital nervous system abnormality +
congenital nystagmus +
congenital ptosis
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
congenital syphilis +
congenital toxoplasmosis
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
cranioectodermal dysplasia +
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
CREST syndrome
Cri-Du-Chat syndrome
Crouzon syndrome-acanthosis nigricans syndrome
cryptophthalmia +
Culler-Jones syndrome
Currarino syndrome
cystic fibrosis
deafness, dystonia, and cerebral hypomyelination
Denys-Drash syndrome
DeSanto-Shinawi syndrome
developmental cardiac valvular defect
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
dialysis disequilibrium syndrome
DICER1 syndrome
diffuse infiltrative lymphocytosis syndrome
DiGeorge syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
dominant optic atrophy plus syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
dropped head syndrome
Duane-radial ray syndrome
Dubowitz syndrome
dysplastic nevus syndrome
EAST syndrome
ectodermal dysplasia +
EEC syndrome +
Ellis-Van Creveld syndrome
Elsahy-Waters syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 1
encephalopathy due to defective mitochondrial and peroxisomal fission 2
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex with muscular dystrophy
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Fanconi-like syndrome
Feingold syndrome
Felty's syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
fetal valproate syndrome
FG syndrome
fibrogenesis imperfecta ossium
fibromyalgia
Filippi syndrome
Floating-Harbor syndrome
focal dermal hypoplasia
fragile X syndrome
Fraser syndrome +
Frasier syndrome
frontonasal dysplasia +
Fuchs' heterochromic uveitis
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GAPO syndrome
gastroschisis
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Gillespie syndrome
Goldberg-Shprintzen syndrome
Goldenhar syndrome
Gorham's disease
growth hormone insensitivity syndrome with immune dysregulation 1
growth hormone insensitivity syndrome with immune dysregulation 2
Guttmacher syndrome
Hallermann-Streiff syndrome
Halperin-Birk syndrome
hand-foot-genital syndrome
Harel-Yoon syndrome
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome
hereditary breast ovarian cancer syndrome
hereditary desmoid disease
Hermansky-Pudlak syndrome +
high myopia-sensorineural deafness syndrome
histiocytosis-lymphadenopathy plus syndrome
holoprosencephaly +
Holt-Oram syndrome
Holzgreve-Wagner-Rehder Syndrome
hydrolethalus syndrome +
hyperferritinemia-cataract syndrome
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatasia +
hypoplastic or aplastic tibia with polydactyly
hypospadias
hypotonia, ataxia, and delayed development syndrome
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
IMAGe syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
imperforate anus
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile liver failure syndrome +
intellectual developmental disorder with cardiac arrhythmia
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability and myopathy syndrome
IVIC syndrome
Jackson-Weiss syndrome
Jalili syndrome
Johanson-Blizzard syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kabuki syndrome
Kagami-Ogata syndrome
Kahrizi syndrome
KBG syndrome
KBG syndrome
Keipert syndrome
Kenny-Caffey syndrome +
KINSSHIP syndrome
Kleefstra syndrome +
Klippel-Trenaunay syndrome
Kohlschutter-Tonz syndrome
Koolen de Vries syndrome
kyphosis +
LADD syndrome +
large congenital melanocytic nevus
Laron syndrome
Larsen syndrome
Larsen-like syndrome B3GAT3 type
laryngomalacia
lateral meningocele syndrome
Laurence-Moon syndrome
Leber congenital amaurosis +
Leber plus disease +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
Li-Fraumeni syndrome +
linear nevus sebaceous syndrome
linear skin defects with multiple congenital anomalies 1
linear skin defects with multiple congenital anomalies 2
linear skin defects with multiple congenital anomalies 3
Loeys-Dietz syndrome +
Lown-Ganong-Levine syndrome
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
Maffucci syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis, Guion-Almeida type
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
Marsili syndrome
Martsolf syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McCune Albright syndrome
McKusick-Kaufman syndrome
Meckel's diverticulum
median arcuate ligament syndrome
MEDNIK syndrome
Meester-Loeys syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Meier-Gorlin syndrome +
melanoma and neural system tumor syndrome
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly-micromelia syndrome
microphthalmia with limb anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miller-Dieker lissencephaly syndrome
mismatch repair cancer syndrome
MLS syndrome +
mosaic variegated aneuploidy syndrome +
Mowat-Wilson syndrome
Muckle-Wells syndrome
Mulchandani-Bhoj-Conlin syndrome
mulibrey nanism
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple chemical sensitivity
multiple congenital anomalies-hypotonia-seizures syndrome +
multiple endocrine neoplasia +
multiple epiphyseal dysplasia with myopia and deafness
myotonia congenita +
N syndrome
nail-patella syndrome
Nance-Horan syndrome
Nasu-Hakola disease
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neural tube defect +
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with hypotonia and speech delay
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome +
NFIA-related disorder
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome
non-congenital cyst of kidney
nonsyndromic congenital nail disorder +
Norrie disease
oculoauricular syndrome
oculocerebrorenal syndrome
oculocutaneous albinism +
oculodentodigital dysplasia
Ogden syndrome
Ohdo syndrome +
Oliver-McFarlane syndrome
Ollier disease
omphalocele
Opitz GBBB syndrome
orofacial cleft +
orofacial cleft +
orofaciodigital syndrome +
osteoporosis-pseudoglioma syndrome
overactive bladder syndrome
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma and congenital alopecia 1
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PAPA syndrome
PCWH syndrome
Pendred Syndrome
Perlman syndrome
Perrault syndrome +
Perry syndrome
persian gulf syndrome
Peters plus syndrome
PHARC syndrome
Pierson syndrome
Pitt-Hopkins syndrome
plasminogen deficiency type I
Poland syndrome
polydactyly +
polyhydramnios, megalencephaly, and symptomatic epilepsy
popliteal pterygium syndrome
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
Potocki-Shaffer syndrome
Prader-Willi syndrome
primary congenital glaucoma +
primary hypertrophic osteoarthropathy
progeroid syndrome +
progressive osseous heteroplasia
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
proximal symphalangism +
prune belly syndrome
pseudo-TORCH syndrome 1
PTEN hamartoma tumor syndrome +
Qazi Markouizos syndrome
radioulnar synostosis
rapadilino syndrome
rapidly involuting congenital hemangioma
RASopathy +
renal coloboma syndrome
renal-hepatic-pancreatic dysplasia
Reye syndrome
rhabdoid tumor predisposition syndrome +
RIDDLE syndrome
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome +
Roberts syndrome
Robinow syndrome +
Rubinstein-Taybi syndrome
Ruijs-Aalfs syndrome
SADDAN
salt and pepper syndrome
Sandestig-Stefanova syndrome
SAPHO syndrome
SATB2-associated syndrome
Schaaf-Yang syndrome
Scheuermann's disease
Schinzel type phocomelia
Schwartz-Jampel syndrome 1
scoliosis +
Seckel syndrome +
Senior-Loken syndrome
septooptic dysplasia
severe congenital encephalopathy due to MECP2 mutation
severe congenital neutropenia +
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT syndrome
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
Silver-Russell syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson syndrome
Sotos syndrome +
spinal chordoma +
spondylocarpotarsal synostosis syndrome
spondylocostal dysostosis +
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia with congenital joint dislocations
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylolisthesis
spondylolysis
spondylosis
Stickler syndrome +
Stolerman neurodevelopmental syndrome
subclavian steal syndrome
sudden infant death syndrome
Sweeney-Cox syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TANGO2-related metabolic encephalopathy and arrythmias
TARP syndrome
Teebi hypertelorism syndrome +
Temple syndrome
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
terminal osseous dysplasia
tetraamelia syndrome +
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
Tietz syndrome
Timothy syndrome
tooth and nail syndrome
TORCH syndrome
TORCH syndrome
Townes-Brocks syndrome
Treacher Collins syndrome +
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
trichothiodystrophy +
triple-A syndrome
tuberous sclerosis +
ulnar-mammary syndrome
urofacial syndrome
Uruguay faciocardiomusculoskeletal syndrome
Usher syndrome +
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL association +
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van Maldergem syndrome +
ventriculomegaly - cystic kidney disease
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency
vertebral hypersegmentation and orofacial anomalies
VEXAS syndrome
Vici syndrome
visceral heterotaxy +
Vissers-Bodmer syndrome
Vohwinkel syndrome
Waardenburg syndrome +
Waisman syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Weaver syndrome
Weill-Marchesani syndrome
Williams-Beuren syndrome
Winchester syndrome
Wiskott-Aldrich syndrome
Wissler-Fanconi syndrome
Wolcott-Rallison syndrome
Wolfram syndrome +
Woodhouse-Sakati syndrome
wrinkly skin syndrome
X-linked retinitis pigmentosa and sinorespiratory infections
X-linked spondyloepiphyseal dysplasia tarda
xeroderma pigmentosum +
yellow nail syndrome
Yoon-Bellen neurodevelopmental syndrome
Yunis-Varon syndrome
Zaki syndrome
Zika virus congenital syndrome
Zika virus congenital syndrome
Zollinger-Ellison syndrome
ZTTK syndrome
denotes an 'is-a' relationship