Human Phenotype Ontology

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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 penis morphology (HP:0000036)

Grandparent Node:
Hypoplastic male external genitalia (HP:0000050)

Parent Node:
Hypoplasia of penis (HP:0008736)

..Starting node
..Microphallus (HP:0030260)

Term ID:

30260

Name:

Microphallus

Synonym:

Definition:

Length of penis more than 2 SD below the mean for age accompanied by hypospadias.

Comments:

Reference:

HP:0030260

Genes and Diseases:

Child Nodes:

Sister Nodes:

Micropenis (HP:0000054)

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:0030260	HP:0030260	Microphallus	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0030260	HP:0030260	Microphallus	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0030260	HP:0030260	Microphallus	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0030260	HP:0030260	Microphallus	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	.	87
HP:0030260	HP:0030260	Microphallus	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0030260	HP:0030260	Microphallus	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0030260	HP:0030260	Microphallus	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0030260	HP:0030260	Microphallus	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0030260	HP:0030260	Microphallus	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0030260	HP:0030260	Microphallus	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0030260	HP:0030260	Microphallus	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0030260	HP:0030260	Microphallus	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0030260	HP:0030260	Microphallus	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0030260	HP:0030260	Microphallus	0	TACR3 CL E G H	6870	11528	OMIM:614840	Hypogonadotropic hypogonadism 11 with or without anosmia	.	34
HP:0030260	HP:0030260	Microphallus	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0030260	HP:0030260	Microphallus	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0030260	HP:0030260	Microphallus	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2

Genes (16) :CDKN1C CILK1 FANCF GATA4 HMGA2 IGF2 MINPP1 OPHN1 PLAG1 RTTN SAMD9 SIN3A TACR3 THOC2 TOE1 TRRAP

Diseases (13) :ORPHA:397590 OMIM:612651 OMIM:603467 OMIM:615542 ORPHA:284339 OMIM:300486 ORPHA:468631 OMIM:617053 ORPHA:94065 OMIM:613406 OMIM:614840 OMIM:300957 OMIM:618454

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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