All terms in MONDO
| Label |
Id |
Description |
|
reducing body myopathy
|
MONDO_0019948 |
|
|
Bamforth-Lazarus syndrome
|
MONDO_0009437 |
|
|
myopathy, reducing body, X-linked, early-onset, severe
|
MONDO_0010414 |
|
|
congenital hypothalamic hamartoma syndrome
|
MONDO_0009436 |
|
|
Pallister-Hall syndrome
|
MONDO_0007804 |
|
|
syndromic X-linked intellectual disability Najm type
|
MONDO_0010417 |
|
|
hypospadias-intellectual disability, Goldblatt type syndrome
|
MONDO_0009435 |
|
|
deafness, cataract, retinitis pigmentosa, and sperm abnormalities
|
MONDO_0010416 |
|
|
hypoproteinemia, hypercatabolic
|
MONDO_0009434 |
|
|
obsolete X-linked sideroblastic anemia
|
MONDO_0010419 |
|
|
hypoplastic left heart syndrome 1
|
MONDO_0009433 |
|
|
hereditary spastic paraplegia 34
|
MONDO_0010418 |
|
|
X-linked pure spastic paraplegia
|
MONDO_0017912 |
|
|
hypopituitarism, congenital, with central diabetes insipidus
|
MONDO_0009432 |
|
|
hereditary hypophosphatemic rickets with hypercalciuria
|
MONDO_0009431 |
|
|
hypophosphatemic rickets, autosomal recessive, 1
|
MONDO_0009430 |
|
|
autosomal recessive hypophosphatemic rickets
|
MONDO_0017324 |
|
|
ichthyosiform erythroderma, corneal involvement, and hearing loss
|
MONDO_0009440 |
|
|
Joubert syndrome 10
|
MONDO_0010431 |
|
|
intellectual disability, X-linked 97
|
MONDO_0010430 |
|
