|
granulomatous disease with defect in neutrophil chemotaxis
|
0009307 |
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
|
0009308 |
|
|
hemangiomatosis, cutaneous, with associated features
|
0009328 |
|
|
hemolytic anemia with thermal sensitivity of red cells
|
0009334 |
|
|
humeroradial synostosis with craniofacial anomalies
|
0009357 |
|
|
autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
|
0009361 |
|
|
hyperlysinemia due to defect in lysine transport into mitochondria
|
0009389 |
|
|
hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
|
0009396 |
|
|
hypokalemic alkalosis, familial, with specific renal tubulopathy
|
0009423 |
|
|
immunodeficiency with defective T-cell response to interleukin 1
|
0009464 |
|
|
Kniest-like dysplasia with pursed lips and ectopia lentis
|
0009496 |
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
0009526 |
|
|
chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation
|
0009534 |
|