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 long bone morphology (HP:0011314)

Parent Node:
Aplasia/hypoplasia of the humerus (HP:0006507)

Parent Node:
Short long bone (HP:0003026)

..Starting node
..Short humerus (HP:0005792)

Term ID:

5792

Name:

Short humerus

Synonym:

Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms

Definition:

Underdevelopment of the humerus.

Comments:

Reference:

HP:0005792

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fibular hypoplasia (HP:0003038)

Forearm undergrowth (HP:0009821)

Short femur (HP:0003097)

Short metatarsal (HP:0010743)

Short tibia (HP:0005736)

Short tubular bones of the hand (HP:0001248)

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:0005792	HP:0005792	Short humerus	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.	117
HP:0005792	HP:0005792	Short humerus	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0005792	HP:0005792	Short humerus	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0005792	HP:0005792	Short humerus	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0005792	HP:0005792	Short humerus	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0005792	HP:0005792	Short humerus	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0005792	HP:0005792	Short humerus	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0005792	HP:0005792	Short humerus	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0005792	HP:0005792	Short humerus	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0005792	HP:0005792	Short humerus	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0005792	HP:0005792	Short humerus	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0005792	HP:0005792	Short humerus	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0005792	HP:0005792	Short humerus	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0005792	HP:0005792	Short humerus	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0005792	HP:0005792	Short humerus	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0005792	HP:0005792	Short humerus	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0005792	HP:0005792	Short humerus	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0005792	HP:0005792	Short humerus	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0005792	HP:0005792	Short humerus	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0005792	HP:0005792	Short humerus	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0005792	HP:0005792	Short humerus	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0005792	HP:0005792	Short humerus	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0005792	HP:0005792	Short humerus	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0005792	HP:0005792	Short humerus	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0005792	HP:0005792	Short humerus	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0005792	HP:0005792	Short humerus	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0005792	HP:0005792	Short humerus	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0005792	HP:0005792	Short humerus	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0005792	HP:0005792	Short humerus	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0005792	HP:0005792	Short humerus	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0005792	HP:0005792	Short humerus	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0005792	HP:0005792	Short humerus	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0005792	HP:0005792	Short humerus	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39

Genes (29) :AGPS ALG12 ATP7A FANCB FLNA FLNB FZD2 GDF5 GNPAT GPC6 GSC IFT122 IHH KIAA0753 LMBR1 LONP1 MYSM1 NOG PEX5 POLR3A RECQL4 RNU4ATAC SALL4 SNRPB SUCLG1 TBX3 TBX5 TNFRSF11B ZIC3

Diseases (32) :OMIM:600121 OMIM:607143 OMIM:304150 OMIM:314390 OMIM:309350 OMIM:108720 ORPHA:93328 OMIM:164745 OMIM:200700 OMIM:222765 OMIM:258315 OMIM:602471 OMIM:218330 OMIM:607778 OMIM:619479 ORPHA:931 OMIM:200500 OMIM:600373 ORPHA:508542 OMIM:186500 OMIM:616716 OMIM:264090 ORPHA:3455 OMIM:218600 OMIM:210710 ORPHA:959 OMIM:607323 OMIM:117650 ORPHA:17 OMIM:181450 OMIM:142900 OMIM:239000

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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