|
PITX2
(HGNC:9005)
|
Axenfeld-Rieger syndrome
(MONDO_0019187)
|
Definitive
|
|
|
ACADM
(HGNC:89)
|
medium chain acyl-CoA dehydrogenase deficiency
(MONDO_0008721)
|
Definitive
|
|
|
AVPR2
(HGNC:897)
|
nephrogenic diabetes insipidus
(MONDO_0016383)
|
Definitive
|
|
|
AVPR2
(HGNC:897)
|
nephrogenic syndrome of inappropriate antidiuresis
(MONDO_0010356)
|
Definitive
|
|
|
PIGN
(HGNC:8967)
|
multiple congenital anomalies-hypotonia-seizures syndrome 1
(MONDO_0013563)
|
Definitive
|
|
|
PIGA
(HGNC:8957)
|
paroxysmal nocturnal hemoglobinuria
(MONDO_0100244)
|
Definitive
|
|
|
PHKA2
(HGNC:8926)
|
disorder of glycogen metabolism
(MONDO_0002412)
|
Definitive
|
|
|
PGM1
(HGNC:8905)
|
congenital disorder of glycosylation
(MONDO_0015286)
|
Definitive
|
|
|
PHEX
(HGNC:8918)
|
hypophosphatemic rickets
(MONDO_0024300)
|
Definitive
|
|
|
PHEX
(HGNC:8918)
|
X-linked hypophosphatemic rickets
(MONDO_0020720)
|
Definitive
|
|
|
PHEX
(HGNC:8918)
|
X-linked dominant hypophosphatemic rickets
(MONDO_0010619)
|
Definitive
|
|
|
PGM1
(HGNC:8905)
|
PGM1-congenital disorder of glycosylation
(MONDO_0013968)
|
Definitive
|
|
|
PGK1
(HGNC:8896)
|
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
(MONDO_0010392)
|
Strong
|
|
|
PFKM
(HGNC:8877)
|
glycogen storage disease VII
(MONDO_0009295)
|
Strong
|
|
|
PEX1
(HGNC:8850)
|
Zellweger spectrum disorders
(MONDO_0019609)
|
Definitive
|
|
|
PEX1
(HGNC:8850)
|
peroxisome biogenesis disorder
(MONDO_0019234)
|
Definitive
|
|
|
PEPD
(HGNC:8840)
|
prolidase deficiency
(MONDO_0008221)
|
Definitive
|
|
|
PDGFB
(HGNC:8800)
|
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
|
Strong
|
|
|
PDGFB
(HGNC:8800)
|
dermatofibrosarcoma protuberans
(MONDO_0011934)
|
Strong
|
|
|
PDHA1
(HGNC:8806)
|
pyruvate dehydrogenase deficiency
(MONDO_0019169)
|
Definitive
|
|