Parent term(s)
Term with siblings
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
achondrogenesis type II
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
ADULT syndrome
adult-onset autosomal dominant demyelinating leukodystrophy
advanced sleep phase syndrome +
age related macular degeneration +
Alexander disease
Alzheimer's disease 1
Alzheimer's disease 2
Alzheimer's disease 3
Alzheimer's disease 4
Alzheimer's disease 5
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 4
Andersen-Tawil syndrome
APP-related cerebral amyloid angiopathy
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
atrial heart septal defect 2
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Alport syndrome
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata
autosomal dominant chronic granulomatous disease
autosomal dominant cutis laxa +
autosomal dominant dyskeratosis congenita 1
autosomal dominant dyskeratosis congenita 2
autosomal dominant dyskeratosis congenita 3
autosomal dominant dyskeratosis congenita 4
autosomal dominant dyskeratosis congenita 6
autosomal dominant Emery-Dreifuss muscular dystrophy 2
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant familial periodic fever
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant mental retardation 55
autosomal dominant mental retardation 56
autosomal dominant microcephaly
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant non-syndromic intellectual disability +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant Parkinson's disease 1
autosomal dominant Parkinson's disease 4
autosomal dominant Parkinson's disease 8
autosomal dominant polycystic kidney disease +
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant sideroblastic anemia 4
autosomal dominant type IV Ehlers-Danlos syndrome
Axenfeld-Rieger syndrome +
Bannayan-Riley-Ruvalcaba syndrome
Bart-Pumphrey syndrome
Beare-Stevenson cutis gyrata syndrome
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
blue color blindness
brachydactyly type A1 +
brachydactyly type A2
brachydactyly type C
brachydactyly type D
branchiooculofacial syndrome
branchiootorenal syndrome
Brooke-Spiegler syndrome
Brown-Vialetto-Van Laere syndrome
Brugada syndrome 1
Brugada syndrome 7
Brugada syndrome 9
bullous congenital ichthyosiform erythroderma
CADASIL 1
CADASIL 2
campomelic dysplasia
Carney complex
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
cherubism
Clouston syndrome
Costello syndrome
Cowden syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Culler-Jones syndrome
Denys-Drash syndrome
Duane-radial ray syndrome
dysplastic nevus syndrome
EEC syndrome +
familial cold autoinflammatory syndrome 4
familial erythrocytosis 1
familial erythrocytosis 3
familial erythrocytosis 5
Feingold syndrome
Frasier syndrome
Hajdu-Cheney syndrome
hand-foot-genital syndrome
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia
hereditary spastic paraplegia 10
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 19
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 33
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 6
hereditary spastic paraplegia 73
hereditary spastic paraplegia 8
Holt-Oram syndrome
hypomyelinating leukodystrophy 6
hypophosphatasia +
ichthyosis vulgaris
iridogoniodysgenesis syndrome
juvenile polyposis syndrome
Koolen de Vries syndrome
LADD syndrome
Larsen syndrome
LEOPARD syndrome
Li-Fraumeni syndrome
Loeys-Dietz syndrome +
Lynch syndrome +
macrocephaly-autism syndrome
malignant hyperthermia
mandibulofacial dysostosis, Guion-Almeida type
maturity-onset diabetes of the young +
McCune Albright syndrome
mitochondrial DNA depletion syndrome 12a
monilethrix
Muckle-Wells syndrome
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A
multiple endocrine neoplasia type 2B
multiple endocrine neoplasia type 4
myofibrillar myopathy 1
myofibrillar myopathy 2
myofibrillar myopathy 3
myofibrillar myopathy 4
myofibrillar myopathy 5
myofibrillar myopathy 6
nail-patella syndrome
neurofibromatosis
nevoid basal cell carcinoma syndrome
ocular albinism with sensorineural deafness
Opitz-GBBB syndrome
ovarian dysgenesis 8
pachyonychia congenita
Pallister-Hall syndrome
paraganglioma
PCWH syndrome
Pelger-Huet anomaly
permanent neonatal diabetes mellitus
photosensitive trichothiodystrophy
piebaldism
polycystic liver disease
popliteal pterygium syndrome
proximal symphalangism
punctate palmoplantar keratoderma type III
Rapp-Hodgkin syndrome
renal coloboma syndrome
Revesz syndrome
rippling muscle disease 2
Rubinstein-Taybi syndrome
SADDAN
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
Stickler syndrome
tarsal-carpal coalition syndrome
Tietz syndrome
Timothy syndrome
Townes-Brocks syndrome
transthyretin amyloidosis
Treacher Collins syndrome
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
tuberous sclerosis +
type 1 diabetes mellitus 2
Waardenburg's syndrome +
Child term(s)

is-a denotes an 'is-a' relationship