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)

Grandparent Node:
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Parent Node:
Aplasia/hypoplasia involving forearm bones (HP:0006503)

..Starting node
..Aplasia involving forearm bones (HP:0009822)

Term ID:

9822

Name:

Aplasia involving forearm bones

Synonym:

Absent forearm bones

Definition:

Comments:

Reference:

HP:0009822

Genes and Diseases:

Child Nodes:

........

Absent radius (HP:0003974)

................... HP:0004977 Bilateral radial aplasia
................... HP:0011908 Unilateral radial aplasia

........

Aplasia of the ulna (HP:0003982)

Sister Nodes:

Absent forearm bone (HP:0003953)

Aplasia/Hypoplasia of the radius (HP:0006501)

Aplasia/Hypoplasia of the ulna (HP:0006495)

Forearm undergrowth (HP:0009821)

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:0009822	HP:0009822	Aplasia involving forearm bones	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia		340
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C		410
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E		73
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009822	HP:0009822	Aplasia involving forearm bones	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0009822	HP:0003974	Absent radius	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	HP:0040283 - Occasional	515
HP:0009822	HP:0003974	Absent radius	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0009822	HP:0003974	Absent radius	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0009822	HP:0003974	Absent radius	1	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.	340
HP:0009822	HP:0003974	Absent radius	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0009822	HP:0003974	Absent radius	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0009822	HP:0003974	Absent radius	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C	.	410
HP:0009822	HP:0003974	Absent radius	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009822	HP:0003974	Absent radius	1	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.	73
HP:0009822	HP:0003974	Absent radius	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L		53
HP:0009822	HP:0003974	Absent radius	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009822	HP:0003974	Absent radius	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009822	HP:0003974	Absent radius	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009822	HP:0003974	Absent radius	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0009822	HP:0003974	Absent radius	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0009822	HP:0003974	Absent radius	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0009822	HP:0003974	Absent radius	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0009822	HP:0003982	Aplasia of the ulna	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0009822	HP:0003982	Aplasia of the ulna	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0009822	HP:0003974	Absent radius	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0009822	HP:0003974	Absent radius	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0009822	HP:0003974	Absent radius	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0009822	HP:0003974	Absent radius	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0009822	HP:0003974	Absent radius	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009822	HP:0003974	Absent radius	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040281 - Very frequent	10
HP:0009822	HP:0003974	Absent radius	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0009822	HP:0003974	Absent radius	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009822	HP:0003974	Absent radius	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0009822	HP:0003974	Absent radius	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0009822	HP:0003974	Absent radius	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0009822	HP:0003982	Aplasia of the ulna	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0009822	HP:0003974	Absent radius	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0009822	HP:0003982	Aplasia of the ulna	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009822	HP:0003974	Absent radius	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0009822	HP:0003974	Absent radius	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome		8
HP:0009822	HP:0003982	Aplasia of the ulna	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0009822	HP:0003982	Aplasia of the ulna	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0009822	HP:0003974	Absent radius	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0009822	HP:0003974	Absent radius	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39
HP:0009822	HP:0004977	Bilateral radial aplasia	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0009822	HP:0004977	Bilateral radial aplasia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0009822	HP:0011908	Unilateral radial aplasia	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8

Genes (27) :CHD7 CHN1 DONSON FANCA FANCB FANCC FANCD2 FANCE FANCL FGF10 FGFR2 FGFR3 FLNB GLI3 LMBR1 MAFB RBM8A RECQL4 RIPK4 SALL4 SF3B4 TBX3 TBX5 TRIO WNT7A XRCC2 ZIC3

Diseases (30) :OMIM:214800 ORPHA:233 OMIM:251230 OMIM:227650 OMIM:300514 OMIM:314390 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:614083 OMIM:149730 ORPHA:56305 OMIM:112310 ORPHA:93322 ORPHA:931 OMIM:200500 ORPHA:2378 OMIM:135750 OMIM:274000 ORPHA:3320 OMIM:218600 OMIM:263650 OMIM:607323 OMIM:154400 OMIM:181450 OMIM:142900 ORPHA:476126 ORPHA:2879 OMIM:276820 OMIM:617247

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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