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 thorax morphology (HP:0000765)

Grandparent Node:
Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Parent Node:
Abnormal clavicle morphology (HP:0000889)

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

..Starting node
..Aplasia/Hypoplasia of the clavicles (HP:0006710)

Term ID:

6710

Name:

Aplasia/Hypoplasia of the clavicles

Synonym:

Absent/small collarbone; Absent/underdeveloped collarbone

Definition:

Absence or underdevelopment of the clavicles (collar bones).

Comments:

Reference:

HP:0006710

Genes and Diseases:

Child Nodes:

........

Short clavicles (HP:0000894)

................... HP:0006608 Midclavicular hypoplasia

........

Congenital pseudoarthrosis of the clavicle (HP:0006585)

........

Midclavicular aplasia (HP:0006638)

........

Aplastic clavicle (HP:0006660)

Sister Nodes:

Aplasia/Hypoplasia of the ribs (HP:0006712)

Aplasia/Hypoplasia of the scapulae (HP:0006713)

Aplasia/Hypoplasia of the sternum (HP:0006714)

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:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina			132
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome			9
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome			31
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome			50
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome			3
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E			25
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina			45
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome			53
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome			21
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome			39
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome			86
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0006710	HP:0006710	Aplasia/Hypoplasia of the clavicles	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0006710	HP:0000894	Short clavicles	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		132
HP:0006710	HP:0000894	Short clavicles	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0006710	HP:0006660	Aplastic clavicle	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0006710	HP:0000894	Short clavicles	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.		29
HP:0006710	HP:0000894	Short clavicles	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0006710	HP:0000894	Short clavicles	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0006710	HP:0000894	Short clavicles	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0006710	HP:0000894	Short clavicles	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006710	HP:0006660	Aplastic clavicle	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		9
HP:0006710	HP:0006660	Aplastic clavicle	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		31
HP:0006710	HP:0006660	Aplastic clavicle	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		50
HP:0006710	HP:0000894	Short clavicles	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0006710	HP:0006660	Aplastic clavicle	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0006710	HP:0000894	Short clavicles	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0006710	HP:0000894	Short clavicles	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0006710	HP:0006585	Congenital pseudoarthrosis of the clavicle	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0006710	HP:0006585	Congenital pseudoarthrosis of the clavicle	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0006710	HP:0000894	Short clavicles	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0006710	HP:0000894	Short clavicles	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0006710	HP:0000894	Short clavicles	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.		175
HP:0006710	HP:0000894	Short clavicles	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0006710	HP:0006660	Aplastic clavicle	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0006710	HP:0000894	Short clavicles	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0006710	HP:0000894	Short clavicles	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0006710	HP:0000894	Short clavicles	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0006710	HP:0006660	Aplastic clavicle	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		3
HP:0006710	HP:0000894	Short clavicles	1	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.		25
HP:0006710	HP:0000894	Short clavicles	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	HP:0011463 - Childhood onset	115
HP:0006710	HP:0006660	Aplastic clavicle	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0006710	HP:0000894	Short clavicles	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0006710	HP:0000894	Short clavicles	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0006710	HP:0000894	Short clavicles	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0006710	HP:0000894	Short clavicles	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0006710	HP:0000894	Short clavicles	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0006710	HP:0000894	Short clavicles	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare		45
HP:0006710	HP:0000894	Short clavicles	1	MSX2 CL E G H	4488	7392	OMIM:168550	Parietal foramina with cleidocranial dysplasia			45
HP:0006710	HP:0000894	Short clavicles	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0006710	HP:0000894	Short clavicles	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0006710	HP:0006660	Aplastic clavicle	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		53
HP:0006710	HP:0006660	Aplastic clavicle	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		21
HP:0006710	HP:0006660	Aplastic clavicle	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent		39
HP:0006710	HP:0006660	Aplastic clavicle	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0006710	HP:0000894	Short clavicles	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent		20
HP:0006710	HP:0006638	Midclavicular aplasia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0006710	HP:0000894	Short clavicles	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0006710	HP:0006660	Aplastic clavicle	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0006710	HP:0000894	Short clavicles	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0006710	HP:0006660	Aplastic clavicle	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0006710	HP:0006660	Aplastic clavicle	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0006710	HP:0000894	Short clavicles	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0006710	HP:0000894	Short clavicles	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0006710	HP:0006660	Aplastic clavicle	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0006710	HP:0000894	Short clavicles	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent		90
HP:0006710	HP:0000894	Short clavicles	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0006710	HP:0006660	Aplastic clavicle	1	SALL4 CL E G H	57167	15924	ORPHA:2307	IVIC syndrome	HP:0040283 - Occasional		86
HP:0006710	HP:0000894	Short clavicles	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0006710	HP:0000894	Short clavicles	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0006710	HP:0000894	Short clavicles	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0006710	HP:0000894	Short clavicles	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0006710	HP:0000894	Short clavicles	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0006710	HP:0000894	Short clavicles	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0006710	HP:0000894	Short clavicles	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0006710	HP:0006585	Congenital pseudoarthrosis of the clavicle	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0006710	HP:0000894	Short clavicles	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.		14
HP:0006710	HP:0000894	Short clavicles	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0006710	HP:0000894	Short clavicles	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0006710	HP:0000894	Short clavicles	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0006710	HP:0000894	Short clavicles	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0006710	HP:0006585	Congenital pseudoarthrosis of the clavicle	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0006710	HP:0006608	Midclavicular hypoplasia	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0006710	HP:0006608	Midclavicular hypoplasia	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0006710	HP:0006608	Midclavicular hypoplasia	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948

Genes (52) :ALX4 ATP7A B4GALT7 BCOR BGN BMPR1A CDC42BPB CDC45 CDC6 CDT1 CHD4 CTSK DCHS1 DYNC2LI1 EFNB1 FAT4 FBXL3 FGFR2 FIG4 FLNA GMNN HOXD13 IDUA KIAA0586 LEMD2 LMNA MSX2 MTX2 NAA10 NSDHL ORC1 ORC4 ORC6 PIGL PORCN PTDSS1 PTEN PTH1R RNU4ATAC RSPO2 RUNX2 SALL4 SCARF2 SRCAP TBX3 TBX5 TRIP11 TWIST1 VAC14 WNT7A XYLT1 ZMPSTE24

Diseases (59) :ORPHA:60015 OMIM:304150 ORPHA:198 OMIM:130070 OMIM:309800 OMIM:300106 ORPHA:79076 OMIM:619841 ORPHA:2554 OMIM:617159 OMIM:265800 OMIM:601390 OMIM:617088 ORPHA:1520 OMIM:304110 OMIM:615546 OMIM:606220 OMIM:614592 ORPHA:313855 OMIM:216340 ORPHA:3472 ORPHA:2484 OMIM:309350 OMIM:113300 OMIM:607014 OMIM:616546 OMIM:619322 ORPHA:740 OMIM:212112 OMIM:248370 ORPHA:90153 ORPHA:1662 OMIM:619793 OMIM:168550 OMIM:308050 ORPHA:3474 ORPHA:2092 OMIM:305600 ORPHA:2658 ORPHA:50945 ORPHA:2636 OMIM:618022 OMIM:119600 ORPHA:1452 ORPHA:2307 OMIM:147750 OMIM:600920 OMIM:136140 ORPHA:2044 OMIM:181450 OMIM:142900 OMIM:200600 OMIM:617746 OMIM:276820 OMIM:615777 ORPHA:370930 ORPHA:90154 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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