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:
Abnormality of male external genitalia (HP:0000032)

Parent Node:
Abnormal penis morphology (HP:0000036)

..Starting node
..Chordee (HP:0000041)

Term ID:

Name:

Chordee

Synonym:

Definition:

Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.

Comments:

Reference:

HP:0000041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal preputium morphology (HP:0100587)

Abnormality of corpus cavernosum (HP:0100623)

Absent penis (HP:0030261)

Bifid penis (HP:0100599)

Displacement of the urethral meatus (HP:0100627)

Erectile dysfunction (HP:0100639)

Hypoplasia of penis (HP:0008736)

Long penis (HP:0000040)

Narrow penis (HP:0030262)

Neoplasm of the penis (HP:0100850)

Partial development of the penile shaft (HP:0008708)

Penile freckling (HP:0031447)

Penoscrotal transposition (HP:0100600)

Torsion of the penis (HP:0030263)

Webbed penis (HP:0030264)

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:0000041	HP:0000041	Chordee	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000041	HP:0000041	Chordee	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000041	HP:0000041	Chordee	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000041	HP:0000041	Chordee	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000041	HP:0000041	Chordee	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000041	HP:0000041	Chordee	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000041	HP:0000041	Chordee	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0000041	HP:0000041	Chordee	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000041	HP:0000041	Chordee	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000041	HP:0000041	Chordee	0	MAP3K1 CL E G H	4214	6848	OMIM:613762	46,xy sex reversal 6	.	13
HP:0000041	HP:0000041	Chordee	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000041	HP:0000041	Chordee	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000041	HP:0000041	Chordee	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000041	HP:0000041	Chordee	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0000041	HP:0000041	Chordee	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0000041	HP:0000041	Chordee	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0000041	HP:0000041	Chordee	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0000041	HP:0000041	Chordee	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000041	HP:0000041	Chordee	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (17) :CARS1 CDC42BPB COX7B DYRK1A FGFR1 HCCS HOXA13 KDM1A MAP3K1 NDUFB11 POR PPP1R12A PTDSS1 SRY ZEB2 ZMYM2 ZNF699

Diseases (17) :OMIM:618891 OMIM:619841 OMIM:309801 ORPHA:268261 OMIM:166250 OMIM:140000 OMIM:616728 ORPHA:477993 OMIM:613762 OMIM:201750 OMIM:618820 OMIM:151050 ORPHA:1772 ORPHA:261552 ORPHA:261537 OMIM:619522 OMIM:619488

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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