Parent term(s)
Term with siblings
septooptic dysplasia

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
acrocallosal syndrome
acrorenal syndrome
Adams-Oliver syndrome
Adie syndrome
ADULT syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Aicardi syndrome
Aicardi-Goutieres 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
anterior spinal artery syndrome
Antley-Bixler syndrome
aplasia of lacrimal and salivary glands
ARC syndrome +
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant disease +
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal hemophilia A
autosomal recessive disease +
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
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis, ptosis, and epicanthus inversus syndrome
Bloom syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
branchiooculofacial syndrome
branchiootic syndrome
branchiootorenal syndrome +
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
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carey-Fineman-Ziter syndrome
Carney complex
Carney-Stratakis syndrome
Cauda equina syndrome
CEDNIK syndrome
cerebellar ataxia, mental retardation and dysequlibrium syndrome
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
cerebellofaciodental syndrome
cerebrocostomandibular syndrome
CHARGE syndrome
Chediak-Higashi syndrome
CHILD syndrome
CHIME syndrome
chondrodysplasia punctata +
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
chondrodysplasia-pseudohermaphroditism syndrome
chronic atrial and intestinal dysrhythmia
chronic fatigue syndrome
ciliopathy +
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
CLOVES syndrome
COACH syndrome
Cockayne syndrome +
CODAS syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome +
Cohen syndrome
cold-induced sweating syndrome +
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital leptin deficiency
congenital nystagmus 1
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
cranioectodermal dysplasia +
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
CREST syndrome
Cri-Du-Chat syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Culler-Jones syndrome
Currarino syndrome
cystic fibrosis
deafness, dystonia, and cerebral hypomyelination
Denys-Drash syndrome
diffuse infiltrative lymphocytosis syndrome
DiGeorge syndrome
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
distal arthrogryposis type 1C
dominant optic atrophy plus syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOORS 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
endocrine-cerebro-osteodysplasia syndrome
epidermolysis bullosa simplex with muscular dystrophy
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
familial Mediterranean fever
Fanconi-like syndrome
Feingold syndrome
Felty's syndrome
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
fetal valproate syndrome
FG syndrome
fibrogenesis imperfecta ossium
Filippi syndrome
Floating-Harbor syndrome
focal dermal hypoplasia
focal segmental glomerulosclerosis 3
fragile X syndrome
Fraser syndrome +
Frasier syndrome
Fuchs' heterochromic uveitis
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GAPO syndrome
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Gillespie 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
hand-foot-genital 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
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 +
hypophosphatasia +
hypoplastic or aplastic tibia with polydactyly
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 +
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
IVIC syndrome
Jackson-Weiss syndrome
Jalili syndrome
JMP syndrome
Johanson-Blizzard syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kabuki syndrome
Kagami-Ogata syndrome
Kahrizi syndrome
KBG syndrome
Keipert syndrome
Kenny-Caffey syndrome +
Kleefstra syndrome +
Klippel-Feil syndrome +
Klippel-Trenaunay syndrome
Kohlschutter-Tonz syndrome
Koolen de Vries syndrome
LADD syndrome
Laron syndrome
Larsen syndrome
Larsen-like syndrome B3GAT3 type
lateral meningocele syndrome
Laurence-Moon syndrome
Leber plus disease +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Li-Fraumeni syndrome +
linear nevus sebaceous syndrome
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
Martsolf syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McCune Albright syndrome
McCune Albright syndrome
McKusick-Kaufman syndrome
MECP2 duplication syndrome
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
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 endocrine neoplasia +
multiple epiphyseal dysplasia with myopia and deafness
multiple pterygium syndrome
N syndrome
nail-patella syndrome
Nance-Horan syndrome
Nasu-Hakola disease
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurofibromatosis +
neurofibromatosis-Noonan syndrome
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome
NFIA-related disorder
Nijmegen breakage syndrome
Norrie disease
oculoauricular syndrome
oculocerebrorenal syndrome
oculocutaneous albinism +
oculodentodigital dysplasia
Ogden syndrome
Ohdo syndrome +
Oliver-McFarlane syndrome
Ollier disease
Opitz-GBBB syndrome +
orofacial cleft +
orofaciodigital syndrome +
osteoporosis-pseudoglioma syndrome
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma 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
popliteal pterygium syndrome
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
Potocki-Shaffer syndrome
Prader-Willi syndrome
primary hypertrophic osteoarthropathy
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
rapadilino syndrome
RASopathy +
renal coloboma syndrome
retinitis pigmentosa 86
Reye syndrome
RIDDLE syndrome
Ritscher-Schinzel syndrome +
Roberts syndrome
Robinow syndrome +
Robinow syndrome +
Rubinstein-Taybi syndrome
Ruijs-Aalfs syndrome
Saldino-Noonan syndrome
salt and pepper syndrome
SAPHO syndrome
SATB2-associated syndrome
Schaaf-Yang syndrome
Schinzel type phocomelia
Schwartz-Jampel syndrome 1
Seckel syndrome +
Senior-Loken syndrome
SHORT syndrome
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson syndrome
Sotos syndrome +
Sotos syndrome +
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Stickler syndrome +
subclavian steal syndrome
sudden infant death syndrome
Sweeney-Cox syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
TARP syndrome
Temple syndrome
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
terminal osseous dysplasia
tetraamelia syndrome +
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
thrombophilia due to thrombomodulin defect
Tietz syndrome
Tietze's syndrome
Timothy syndrome
tooth and nail 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
VEXAS syndrome
Vici syndrome
Vohwinkel syndrome
Waardenburg's syndrome +
Waisman syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Weaver syndrome
Weill-Marchesani syndrome
Weill-Marchesani syndrome
Werner 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
xeroderma pigmentosum +
XFE progeroid syndrome
yellow nail syndrome
Yunis-Varon syndrome
Zika virus congenital syndrome
Zollinger-Ellison syndrome
Child term(s)

is-a denotes an 'is-a' relationship