| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00012
|
Polycythemia vera
|
Polycythemia vera (PV) is a clonal myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative ...
|
Cancer
|
|
(PV) JAK2 [HSA:3717] [KO:K04447]
|
|
H00756
|
Pitt-Hopkins syndrome
|
... is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular breathing pattern is characteristic ...
|
Congenital malformation
|
|
(PTHS) TCF4 [HSA:6925] [KO:K15603]
(PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380]
(PTHSL2) NRXN1 [HSA:9378] [KO:K07377]
|
|
H00767
|
SEMD, Matrilin type
|
SEMD, Matrilin type is a form of autosomal recessive spondyloepimetaphyseal dysplasia caused by homozygous mutation in matrilin 3, the extracellular matrix of cartilage. The phenotype is short-limb dwarfism ...
|
Congenital malformation
|
|
MATN3 [HSA:4148] [KO:K19467]
|