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:
Abnormality of body weight (HP:0004323)

Parent Node:
Decreased body weight (HP:0004325)

..Starting node
..Eunuchoid habitus (HP:0003782)

Term ID:

3782

Name:

Eunuchoid habitus

Synonym:

Definition:

A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).

Comments:

Reference:

HP:0003782

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased body mass index (HP:0045082)

Failure to thrive (HP:0001508)

Slender build (HP:0001533)

Small for gestational age (HP:0001518)

Weight loss (HP:0001824)

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:0003782	HP:0003782	Eunuchoid habitus	0	ANOS1 CL E G H	3730	6211	OMIM:308700	Hypogonadotropic hypogonadism 1 with or without anosmia	.	65
HP:0003782	HP:0003782	Eunuchoid habitus	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	515
HP:0003782	HP:0003782	Eunuchoid habitus	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0003782	HP:0003782	Eunuchoid habitus	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	4
HP:0003782	HP:0003782	Eunuchoid habitus	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0003782	HP:0003782	Eunuchoid habitus	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003782	HP:0003782	Eunuchoid habitus	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	17
HP:0003782	HP:0003782	Eunuchoid habitus	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	172
HP:0003782	HP:0003782	Eunuchoid habitus	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	15
HP:0003782	HP:0003782	Eunuchoid habitus	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	92
HP:0003782	HP:0003782	Eunuchoid habitus	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	8
HP:0003782	HP:0003782	Eunuchoid habitus	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	3
HP:0003782	HP:0003782	Eunuchoid habitus	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	14
HP:0003782	HP:0003782	Eunuchoid habitus	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003782	HP:0003782	Eunuchoid habitus	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	9
HP:0003782	HP:0003782	Eunuchoid habitus	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003782	HP:0003782	Eunuchoid habitus	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	5
HP:0003782	HP:0003782	Eunuchoid habitus	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	6
HP:0003782	HP:0003782	Eunuchoid habitus	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	34
HP:0003782	HP:0003782	Eunuchoid habitus	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040282 - Frequent	66
HP:0003782	HP:0003782	Eunuchoid habitus	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040281 - Very frequent	10

Genes (21) :ANOS1 CHD7 CYP19A1 DUSP6 ESR2 FGF17 FGF8 FGFR1 GNRH1 GNRHR HS6ST1 KISS1 KISS1R NSMF PROK2 PROKR2 SPRY4 TAC3 TACR3 TUBB4A WDR11

Diseases (5) :OMIM:308700 ORPHA:432 ORPHA:91 OMIM:618187 ORPHA:98805

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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