|
HSD3B2
(HGNC:5218)
|
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
(MONDO_0008727)
|
Definitive
|
|
|
HSD17B3
(HGNC:5212)
|
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
(MONDO_0009916)
|
Definitive
|
|
|
HSD11B1
(HGNC:5208)
|
cortisone reductase deficiency
(MONDO_0000193)
|
Limited
|
|
|
HS6ST1
(HGNC:5201)
|
Kallmann syndrome
(MONDO_0018800)
|
Moderate
|
|
|
HS6ST1
(HGNC:5201)
|
hypogonadotropic hypogonadism
(MONDO_0018555)
|
Moderate
|
|
|
ABCC1
(HGNC:51)
|
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
|
Limited
|
|
|
HRAS
(HGNC:5173)
|
Costello syndrome
(MONDO_0009026)
|
Definitive
|
|
|
HRAS
(HGNC:5173)
|
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
|
Limited
|
|
|
HRAS
(HGNC:5173)
|
rhabdomyosarcoma
(MONDO_0005212)
|
Moderate
|
|
|
HR
(HGNC:5172)
|
hypotrichosis 4
(MONDO_0100522)
|
Limited
|
|
|
HR
(HGNC:5172)
|
Marie Unna hereditary hypotrichosis
(MONDO_0018631)
|
Strong
|
|
|
HPGD
(HGNC:5154)
|
hypertrophic osteoarthropathy, primary, autosomal recessive, 1
(MONDO_0024546)
|
Strong
|
|
|
HR
(HGNC:5172)
|
alopecia universalis congenita
(MONDO_0008757)
|
Moderate
|
|
|
HPGD
(HGNC:5154)
|
isolated congenital digital clubbing
(MONDO_0007343)
|
Limited
|
|
|
HPGD
(HGNC:5154)
|
cranio-osteoarthropathy
(MONDO_0015466)
|
Moderate
|
|
|
HPCA
(HGNC:5144)
|
torsion dystonia 2
(MONDO_0009141)
|
Moderate
|
|
|
HOXD13
(HGNC:5136)
|
brachydactyly type E
(MONDO_0019677)
|
Moderate
|
|
|
HOXD10
(HGNC:5133)
|
congenital vertical talus
(MONDO_0008652)
|
Limited
|
|
|
HOXD13
(HGNC:5136)
|
synpolydactyly type 1
(MONDO_0008513)
|
Definitive
|
|
|
HOXB13
(HGNC:5112)
|
prostate cancer
(MONDO_0008315)
|
Definitive
|
|