loading...| Preferred Name |
Hypoadrenocorticism, Familial |
|
| Synonyms |
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism |
|
| Definitions |
Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000075262 |
|
| altLabel |
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism Xp21 Contiguous Gene Deletion Syndrome X linked Congenital Adrenal Hypoplasia X-Linked Addison Disease X-linked Adrenal Hypoplasia Complex Glycerol Kinase Deficiency Adrenal Hypoplasia, Congenital Addison Disease, X-Linked X linked Adrenal Hypoplasia Cytomegalic Adrenocortical Hypoplasias X-linked Congenital Adrenal Hypoplasia Familial Hypoadrenocorticism Familial X-linked Addison Disease AHC with Isolated Gonadotropin Deficiency Congenital Adrenal Hypoplasias Familial X linked Addison Disease Familial Hypoadrenocorticisms Hypoadrenocorticisms, Familial Cytomegalic Adrenocortical Hypoplasia Adrenal Hypoplasia, X-linked Congenital Adrenal Hypoplasia Addison Disease, X Linked Hypoplasia, Congenital Adrenal |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C4505291 C0795887 C1868690 C0342482 |
|
| DC |
1 |
|
| definition |
Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200 |
|
| DX |
20180101 |
|
| HN |
2018(2010) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2018; HYPOADRENOCORTICISM, FAMILIAL was indexed under ADRENAL INSUFFICIENCY 2010-2017 |
|
| MDA |
20170711 |
|
| MMR |
20170620 |
|
| MN |
C19.053.500.263.500 |
|
| notation |
D000075262 |
|
| prefLabel |
Hypoadrenocorticism, Familial |
|
| TERMUI |
T800710 T000921641 T824984 T000921615 T000921643 T824983 T000921619 T800705 T000921647 T800707 T000921616 |
|
| TH |
OMIM (2013) NLM (2018) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |