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 forearm bone morphology (HP:0040072)

Parent Node:
Bowed forearm bones (HP:0003956)

Parent Node:
obsolete Abnormality of the ulna (HP:0002997)

..Starting node
..Ulnar bowing (HP:0003031)

Term ID:

3031

Name:

Ulnar bowing

Synonym:

Bowed ulna; Curved ulna; Curving of inner forearm bone

Definition:

Bending of the diaphysis (shaft) of the ulna.

Comments:

Reference:

HP:0003031

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal morphology of ulna (HP:0040071)

Abnormal olecranon morphology (HP:0004032)

Abnormal ulnar epiphysis morphology (HP:0004037)

Abnormal ulnar metaphysis morphology (HP:0004039)

Aplasia/Hypoplasia of the ulna (HP:0006495)

Dorsal subluxation of ulna (HP:0006459)

Exostoses of the ulna (HP:0003985)

Fractured ulna (HP:0003987)

Long ulna (HP:0003988)

Notched ulna (HP:0003989)

Osteosclerosis of the ulna (HP:0003991)

Pointed ulna (HP:0003990)

Posteriorly dislocated ulna (HP:0003984)

Radioulnar synostosis (HP:0002974)

Slender ulna (HP:0003992)

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:0003031	HP:0003031	Ulnar bowing	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0003031	HP:0003031	Ulnar bowing	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0003031	HP:0003031	Ulnar bowing	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0003031	HP:0003031	Ulnar bowing	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0003031	HP:0003031	Ulnar bowing	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0003031	HP:0003031	Ulnar bowing	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0003031	HP:0003031	Ulnar bowing	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0003031	HP:0003031	Ulnar bowing	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0003031	HP:0003031	Ulnar bowing	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0003031	HP:0003031	Ulnar bowing	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0003031	HP:0003031	Ulnar bowing	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0003031	HP:0003031	Ulnar bowing	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0003031	HP:0003031	Ulnar bowing	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0003031	HP:0003031	Ulnar bowing	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0003031	HP:0003031	Ulnar bowing	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0003031	HP:0003031	Ulnar bowing	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0003031	HP:0003031	Ulnar bowing	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0003031	HP:0003031	Ulnar bowing	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0003031	HP:0003031	Ulnar bowing	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0003031	HP:0003031	Ulnar bowing	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3

Genes (19) :CHST3 COL11A1 FGFR2 FGFR3 FLNA HOXA11 IFT43 LAMA5 MMP13 PCNT POR PRKG2 RBM8A RECQL4 RIPK4 SCARF2 SHOX SLC26A2 VPS35L

Diseases (19) :OMIM:143095 OMIM:154780 OMIM:207410 OMIM:100800 OMIM:304120 OMIM:605432 OMIM:617866 OMIM:620076 OMIM:602111 OMIM:210720 OMIM:201750 OMIM:619636 OMIM:274000 OMIM:218600 OMIM:263650 OMIM:600920 ORPHA:240 ORPHA:93307 OMIM:619135

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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