|
congenital myopathy with excess of thin filaments
|
20342 |
|
|
retinitis pigmentosa type 40
|
13429 |
|
|
noonan-like syndrome with loose anagen hair
|
C564342 |
|
|
Joubert syndrome with JATD
|
18342 |
|
|
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
|
18342 |
|
|
syndrome, hand-arm vibration
|
D053421 |
|
|
syndromes, hand-arm vibration
|
D053421 |
|
|
hand arm vibration syndrome
|
D053421 |
|
|
clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly
|
7342 |
|
|
clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly; CCF
|
http://purl.obolibrary.org/obo/MONDO_0007342 |
|
|
Loeys-Dietz syndrome with osteoarthritis
|
13426 |
|
|
Hirschsprung disease with polydactyly, renal agenesis, and deafness
|
9342 |
|
|
agonadism, XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
|
C563429 |
|
|
permanent neonatal, with neurologic features diabetes mellitus
|
C563424 |
|
