Human Phenotype Ontology 
Grandparent Node:
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Benign neoplasm of the central nervous system (HP:0100835)help
Grandparent Node:
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Hamartoma (HP:0010566)help
Parent Node:
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Abnormal hypothalamus morphology (HP:0012286)help
Parent Node:
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Cerebral hamartoma (HP:0009731)help
..Starting node
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Hypothalamic hamartoma (HP:0002444)help
Term ID: 2444
Name: Hypothalamic hamartoma
Synonym:
Definition: The presence of a hamartoma of the hypothalamus.
Comments:
Reference: HP:0002444
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCortical tubers (HP:0009717) help
..expandSubependymal nodules (HP:0009716) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002444HP:0002444Hypothalamic hamartoma0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0002444HP:0002444Hypothalamic hamartoma0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0002444HP:0002444Hypothalamic hamartoma0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional
HP:0002444HP:0002444Hypothalamic hamartoma0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0002444HP:0002444Hypothalamic hamartoma0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040280 - Obligate270
HP:0002444HP:0002444Hypothalamic hamartoma0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional4
HP:0002444HP:0002444Hypothalamic hamartoma0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional167
HP:0002444HP:0002444Hypothalamic hamartoma0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002444HP:0002444Hypothalamic hamartoma0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I.201
HP:0002444HP:0002444Hypothalamic hamartoma0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional201
HP:0002444HP:0002444Hypothalamic hamartoma0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional1
HP:0002444HP:0002444Hypothalamic hamartoma0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0002444HP:0002444Hypothalamic hamartoma0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0002444HP:0002444Hypothalamic hamartoma0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0002444HP:0002444Hypothalamic hamartoma0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional31
HP:0002444HP:0002444Hypothalamic hamartoma0TIAM1 CL E G H707411805OMIM:6199082
HP:0002444HP:0002444Hypothalamic hamartoma0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional45
HP:0002444HP:0002444Hypothalamic hamartoma0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040283 - Occasional61
HP:0002444HP:0002444Hypothalamic hamartoma0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30


Genes (16) :CPLANE1 FAM149B1 GLI3 KIAA0753 KIF7 MAN2C1 OFD1 PDE6D SIX6 SMO SOX2 TCTN3 TIAM1 TMEM216 TOPORS VPS16

Diseases (10) :ORPHA:2754 OMIM:277170 OMIM:146510 ORPHA:672 OMIM:619775 OMIM:311200 OMIM:206900 OMIM:241800 OMIM:619908 OMIM:619291
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.