Parent term(s)
Term with siblings
Blau syndrome

Aarskog 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
ankyloblepharon-ectodermal defects-cleft lip/palate 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 limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
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
autosomal recessive Parkinson's disease 14
Axenfeld-Rieger syndrome +
Bannayan-Riley-Ruvalcaba syndrome
Bart-Pumphrey syndrome
Beare-Stevenson cutis gyrata syndrome
Birk-Barel syndrome
Birt-Hogg-Dube 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
Christianson syndrome
Clouston syndrome
congenital disorder of glycosylation type IIm
Costello syndrome
Cowden disease
Crouzon syndrome-acanthosis nigricans syndrome
Culler-Jones syndrome
Denys-Drash syndrome
Duane-radial ray syndrome
dysplastic nevus syndrome
EEC syndrome +
familial adenomatous polyposis
Feingold syndrome
Frasier syndrome
Hajdu-Cheney syndrome
hand-foot-genital syndrome
hereditary breast ovarian cancer syndrome
hereditary hemorrhagic telangiectasia
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
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
nail-patella syndrome
neurodegeneration with brain iron accumulation 5
neurofibromatosis
nevoid basal cell carcinoma syndrome
ocular albinism with sensorineural deafness
Opitz-GBBB syndrome
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
Rapp-Hodgkin syndrome
renal coloboma syndrome
Rubinstein-Taybi syndrome
SADDAN
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
tuberous sclerosis +
type 1 diabetes mellitus 2
Waardenburg's syndrome +
X-linked hypophosphatemic rickets
X-linked severe combined immunodeficiency
X-linked spermatogenic failure 1
Child term(s)

is-a denotes an 'is-a' relationship