|
renal, with ocular involvement hypomagnesemia 5
|
C565423 |
|
|
neonatal self-limited primary, with hypercalciuria hyperparathyroidism
|
C565496 |
|
|
nonfunctional l-gulonolactone oxidase
|
C565486 |
|
|
absence deformity of, with congenital cataract leg
|
C565442 |
|
|
congenital, autosomal recessive indifference to pain
|
C565467 |
|
|
palmoplantar, norrbotten recessive type keratoderma
|
C565454 |
|
|
polyuria, and seizures hyperphosphatemia
|
C565494 |
|
|
marfanoid mental retardation syndrome, autosomal
|
C565410 |
|
|
infantilism, mental retardation, hypodontia, hypotrichosis leukomelanoderma
|
C565440 |
|
|
leukotriene c4 synthase deficiency
|
C565439 |
|
|
hypoglycemia, neonatal, simulating foetopathia diabetica
|
C565484 |
|
|
progressive lymphoid system deterioration
|
C565430 |
|
|
partial combined, with absence of HLA determinants and beta-2-microglobulin from lymphocytes immunodeficiency
|
C565468 |
|
|
myopathy due to lactate transporter defect
|
C565449 |
|
