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:
Duplication of phalanx of hand (HP:0009997)

Parent Node:
Duplication of thumb phalanx (HP:0009942)

Parent Node:
Partial duplication of the phalanx of hand (HP:0009999)

..Starting node
..Partial duplication of thumb phalanx (HP:0009944)

Term ID:

9944

Name:

Partial duplication of thumb phalanx

Synonym:

Bifid thumb; Notching of thumb phalanges; Partial duplication of the phalanges of the thumb; Partial duplication of the thumb bones

Definition:

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.

Comments:

Reference:

HP:0009944

Genes and Diseases:

Child Nodes:

........

Bifid distal phalanx of the thumb (HP:0009611)

........

Bifid proximal phalanx of the thumb (HP:0009614)

Sister Nodes:

Partial duplication of the distal phalanges of the hand (HP:0010004)

Partial duplication of the middle phalanges of the hand (HP:0010005)

Partial duplication of the phalanges of the 2nd finger (HP:0009956)

Partial duplication of the phalanges of the 3rd finger (HP:0009961)

Partial duplication of the phalanges of the 4th finger (HP:0009974)

Partial duplication of the phalanges of the 5th finger (HP:0009987)

Partial duplication of the proximal phalanges of the hand (HP:0010003)

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:0009944	HP:0009944	Partial duplication of thumb phalanx	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	GLI1 CL E G H	2735	4317	OMIM:174400	Polydactyly, preaxial I	.	1
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.	42
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.	123
HP:0009944	HP:0009944	Partial duplication of thumb phalanx	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0009944	HP:0009614	Bifid proximal phalanx of the thumb	1	CL E G H
HP:0009944	HP:0009611	Bifid distal phalanx of the thumb	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009944	HP:0009611	Bifid distal phalanx of the thumb	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0009944	HP:0009611	Bifid distal phalanx of the thumb	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0009944	HP:0009611	Bifid distal phalanx of the thumb	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare

Genes (40) :ADA2 CANT1 CHSY1 DACT1 DVL1 FANCD2 FGF10 FGFR2 FGFR3 GATA1 GLI1 INTU KIF7 NUP107 PAH PPP2R3C RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SALL1 SF3B2 TBX5 TSR2

Diseases (18) :ORPHA:124 OMIM:251450 ORPHA:363417 ORPHA:857 OMIM:616331 OMIM:227646 OMIM:149730 OMIM:174400 OMIM:617926 OMIM:200990 OMIM:618348 OMIM:616730 ORPHA:2209 OMIM:618419 OMIM:105650 OMIM:107480 OMIM:164210 OMIM:142900

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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