Human Phenotype Ontology

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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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

..Starting node
..Hypoplasia of olfactory tract (HP:0007036)

Term ID:

7036

Name:

Hypoplasia of olfactory tract

Synonym:

Underdeveloped olfactory tract

Definition:

Comments:

Reference:

HP:0007036

Genes and Diseases:

Child Nodes:

Sister Nodes:

Agenesis of pineal gland (HP:0012687)

Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

Aplasia/Hypoplasia of the brainstem (HP:0007362)

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Aplasia/Hypoplasia of the optic tract (HP:0011000)

Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)

Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Global brain atrophy (HP:0002283)

Hypoplasia of the olfactory bulb (HP:0040326)

Hypoplastic olfactory lobes (HP:0006894)

Optic nerve hypoplasia (HP:0000609)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040283 - Occasional	109
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0007036	HP:0007036	Hypoplasia of olfactory tract	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61

Genes (10) :CPLANE1 FAM149B1 KIAA0753 KIF7 OFD1 PDE6D SOX9 TCTN3 TMEM216 TOPORS

Diseases (2) :ORPHA:2754 ORPHA:140

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

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