Human Phenotype Ontology

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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 clavicle morphology (HP:0000889)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Aplasia/Hypoplasia of the clavicles (HP:0006710)

..Starting node
..Short clavicles (HP:0000894)

Term ID:

894

Name:

Short clavicles

Synonym:

Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles

Definition:

Reduced length of the clavicles.

Comments:

Reference:

HP:0000894

Genes and Diseases:

Child Nodes:

........

Midclavicular hypoplasia (HP:0006608)

Sister Nodes:

Aplastic clavicle (HP:0006660)

Congenital pseudoarthrosis of the clavicle (HP:0006585)

Midclavicular aplasia (HP:0006638)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000894	HP:0000894	Short clavicles	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0000894	HP:0000894	Short clavicles	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0000894	HP:0000894	Short clavicles	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0000894	HP:0000894	Short clavicles	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000894	HP:0000894	Short clavicles	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0000894	HP:0000894	Short clavicles	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0000894	HP:0000894	Short clavicles	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000894	HP:0000894	Short clavicles	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0000894	HP:0000894	Short clavicles	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000894	HP:0000894	Short clavicles	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0000894	HP:0000894	Short clavicles	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000894	HP:0000894	Short clavicles	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0000894	HP:0000894	Short clavicles	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.		175
HP:0000894	HP:0000894	Short clavicles	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0000894	HP:0000894	Short clavicles	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000894	HP:0000894	Short clavicles	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0000894	HP:0000894	Short clavicles	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0000894	HP:0000894	Short clavicles	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.		25
HP:0000894	HP:0000894	Short clavicles	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0000894	HP:0000894	Short clavicles	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0000894	HP:0000894	Short clavicles	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0000894	HP:0000894	Short clavicles	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0000894	HP:0000894	Short clavicles	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0000894	HP:0000894	Short clavicles	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0000894	HP:0000894	Short clavicles	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0000894	HP:0000894	Short clavicles	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0000894	HP:0000894	Short clavicles	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000894	HP:0000894	Short clavicles	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0000894	HP:0000894	Short clavicles	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0000894	HP:0000894	Short clavicles	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000894	HP:0000894	Short clavicles	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0000894	HP:0000894	Short clavicles	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0000894	HP:0000894	Short clavicles	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0000894	HP:0000894	Short clavicles	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent		90
HP:0000894	HP:0000894	Short clavicles	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0000894	HP:0000894	Short clavicles	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0000894	HP:0000894	Short clavicles	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000894	HP:0000894	Short clavicles	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000894	HP:0000894	Short clavicles	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0000894	HP:0000894	Short clavicles	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0000894	HP:0000894	Short clavicles	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0000894	HP:0000894	Short clavicles	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000894	HP:0000894	Short clavicles	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0000894	HP:0000894	Short clavicles	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0000894	HP:0000894	Short clavicles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0000894	HP:0000894	Short clavicles	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0000894	HP:0000894	Short clavicles	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0000894	HP:0006608	Midclavicular hypoplasia	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0000894	HP:0006608	Midclavicular hypoplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000894	HP:0006608	Midclavicular hypoplasia	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948

Genes (35) :ALX4 ATP7A B4GALT7 BCOR BGN BMPR1A CDC42BPB CHD4 DCHS1 DYNC2LI1 FAT4 FBXL3 FGFR2 FIG4 FLNA HOXD13 IDUA LEMD2 LMNA MSX2 NAA10 NSDHL PORCN PTEN RSPO2 RUNX2 SALL4 SCARF2 SRCAP TBX3 TBX5 TRIP11 TWIST1 XYLT1 ZMPSTE24

Diseases (43) :ORPHA:60015 OMIM:304150 OMIM:130070 OMIM:309800 OMIM:300106 ORPHA:79076 OMIM:619841 OMIM:617159 OMIM:601390 OMIM:617088 OMIM:615546 OMIM:606220 OMIM:614592 ORPHA:313855 OMIM:216340 OMIM:309350 ORPHA:2484 OMIM:113300 OMIM:607014 OMIM:619322 ORPHA:740 OMIM:212112 OMIM:248370 OMIM:619793 OMIM:168550 OMIM:308050 ORPHA:2092 OMIM:305600 OMIM:618022 OMIM:119600 ORPHA:1452 OMIM:147750 OMIM:600920 ORPHA:2044 OMIM:136140 OMIM:181450 OMIM:142900 OMIM:200600 OMIM:617746 OMIM:615777 ORPHA:370930 OMIM:608612 OMIM:275210

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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