loading...| Preferred Name |
Kallmann Syndrome |
|
| Synonyms |
Syndrome, Kallmann's Kallmann's Syndrome Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadism, Anosmic Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Kallmann Syndrome 1 Anosmic Hypogonadisms Autosomal Dominant Form of Kallmann Syndrome Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) Kallmann Syndrome 2 Kallmanns Syndrome Kallmann Syndrome 3 Kallmann Syndrome, Type 1, X-linked Syndrome, Kallmann Autosomal Recessive Form of Kallmann Syndrome Hypogonadisms, Anosmic Dysplasia Olfactogenitalis of De Morsier Kallmann Syndrome, Type 3, Recessive Anosmic Hypogonadism |
|
| Definitions |
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. Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN). 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 |
Syndrome, Kallmann's Kallmann's Syndrome Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadism, Anosmic Hypogonadotropic Hypogonadism and Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Kallmann Syndrome 1 Anosmic Hypogonadisms Autosomal Dominant Form of Kallmann Syndrome Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion) Kallmann Syndrome 2 Kallmanns Syndrome Kallmann Syndrome 3 Kallmann Syndrome, Type 1, X-linked Syndrome, Kallmann Autosomal Recessive Form of Kallmann Syndrome Hypogonadisms, Anosmic Dysplasia Olfactogenitalis of De Morsier Kallmann Syndrome, Type 3, Recessive Anosmic Hypogonadism |
|
| 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 |
C0162809 C2930927 C1563719 C1563720 |
|
| DC |
1 |
|
| definition |
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. Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN). 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. |
|
| DX |
19930101 |
|
| FX |
D007987 D051496 |
|
| HN |
93 |
|
| 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 |
|
| Inverse of RO | ||
| Machine permutation |
93 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567199 http://purl.bioontology.org/ontology/MESH/C537101 http://purl.bioontology.org/ontology/MESH/C567220 http://purl.bioontology.org/ontology/MESH/C566948 http://purl.bioontology.org/ontology/MESH/C536873 http://purl.bioontology.org/ontology/MESH/C538534 http://purl.bioontology.org/ontology/MESH/C563652 |
|
| MDA |
19920520 |
|
| MMR |
20210630 |
|
| MN |
C16.320.467 C12.800.316.096.750 C16.131.939.316.096.750 C19.391.119.096.750 C12.200.706.316.096.750 C12.050.351.875.253.096.750 C19.391.482.600 |
|
| notation |
D017436 |
|
| prefLabel |
Kallmann Syndrome |
|
| TERMUI |
T608489 T812062 T052162 T824270 T052163 T782712 T841818 T824272 T608488 T841819 T824271 T751040 T782713 T751039 T841820 |
|
| TH |
OMIM (2013) NLM (1993) NLM (2012) NLM (2013) NLM (2010) GHR (2014) NLM (2006) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D058490 |