Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal forebrain morphology (HP:0100547)

Parent Node:
Abnormality of the diencephalon (HP:0010662)

..Starting node
..Abnormal hypothalamus morphology (HP:0012286)

Term ID:

12286

Name:

Abnormal hypothalamus morphology

Synonym:

Abnormal shape of hypothalamus; Abnormality of hypothalamus morphology; Abnormality of the hypothalamus

Definition:

Any structural anomaly of the hypothalamus.

Comments:

Reference:

HP:0012286

Genes and Diseases:

Child Nodes:

........

Hypothalamic hamartoma (HP:0002444)

........

Hypothalamic atrophy (HP:0025058)

........

Dysgenesis of the hypothalamus (HP:0025098)

........

Hypothalamic arteriovenous malformation (HP:0031255)

Sister Nodes:

Abnormal hypothalamus physiology (HP:0012285)

Abnormality of thalamus morphology (HP:0010663)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040280 - Obligate		276
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040280 - Obligate		88
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	HP:0040280 - Obligate	HP:0003593 - Infantile onset	46
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0012286	HP:0012286	Abnormal hypothalamus morphology	0	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30
HP:0012286	HP:0031255	Hypothalamic arteriovenous malformation	1	CL E G H
HP:0012286	HP:0025098	Dysgenesis of the hypothalamus	1	CL E G H
HP:0012286	HP:0033105	Interhypothalamic Adhesion	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040280 - Obligate		270
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		4
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		167
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		201
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		1
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0012286	HP:0025058	Hypothalamic atrophy	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		31
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		45
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		61
HP:0012286	HP:0002444	Hypothalamic hamartoma	1	VPS16 CL E G H	64601	14584	OMIM:619291	DYSTONIA 30; DYT30

Genes (21) :BRAF CDH2 CPLANE1 CTNNB1 FAM149B1 GLI3 KIAA0753 KIF7 LEPR MAN2C1 OFD1 PDE6D SIX6 SMO SOX2 SPG11 TCTN3 TIAM1 TMEM216 TOPORS VPS16

Diseases (14) :ORPHA:54595 OMIM:618929 ORPHA:2754 OMIM:277170 ORPHA:672 OMIM:146510 OMIM:614963 OMIM:619775 OMIM:311200 OMIM:206900 OMIM:241800 ORPHA:2822 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen