loading...| Preferred Name |
Kallmann Syndrome |
| Synonyms |
Dysplasia Olfactogenitalis of De Morsier |
| Definitions |
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. |
| ID |
http://purl.bioontology.org/ontology/MESH/D017436 |
| altLabel |
Dysplasia Olfactogenitalis of De Morsier Kallmann Syndrome 3 Anosmic Hypogonadism Hypogonadism, Anosmic Syndrome, Kallmann's Kallmann Syndrome 1 Kallmann Syndrome, Type 3, Recessive Syndrome, Kallmann Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) Hypogonadotropic Hypogonadism-Anosmia Syndrome Autosomal Recessive Form of Kallmann Syndrome Hypogonadisms, Anosmic Anosmic Idiopathic Hypogonadotropic Hypogonadism Kallmann Syndrome 2 Kallmann's Syndrome Anosmic Hypogonadisms Kallmann Syndrome, Type 1, X-linked Kallmanns Syndrome Autosomal Dominant Form of Kallmann Syndrome |
| 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 |
C2930927 C0162809 C1563720 C1563719 |
| DC |
1 |
| definition |
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN). Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS. |
| DX |
19930101 |
| FX |
D007987 D051496 |
| HN |
93 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
93 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538534 http://purl.bioontology.org/ontology/MESH/C537101 http://purl.bioontology.org/ontology/MESH/C563652 http://purl.bioontology.org/ontology/MESH/C566948 http://purl.bioontology.org/ontology/MESH/C565696 http://purl.bioontology.org/ontology/MESH/C563651 http://purl.bioontology.org/ontology/MESH/C567220 |
| MDA |
19920520 |
| MMR |
20210630 |
| MN |
C12.050.351.875.253.096.750 C16.320.467 C16.131.939.316.096.750 C12.800.316.096.750 C19.391.482.600 C12.200.706.316.096.750 C19.391.119.096.750 |
| notation |
D017436 |
| prefLabel |
Kallmann Syndrome |
| TERMUI |
T782712 T751040 T841819 T782713 T824272 T841820 T052163 T824270 T812062 T608489 T841818 T608488 T751039 T052162 T824271 |
| TH |
NLM (2006) NLM (2013) NLM (1993) NLM (2010) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D058490 |