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 scapula morphology (HP:0000782)

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

Parent Node:
Aplasia/Hypoplasia of the scapulae (HP:0006713)

..Starting node
..Hypoplastic scapulae (HP:0000882)

Term ID:

882

Name:

Hypoplastic scapulae

Synonym:

Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae; Small shoulder blade

Definition:

Underdeveloped scapula.

Comments:

Reference:

HP:0000882

Genes and Diseases:

Child Nodes:

........

Small abnormally formed scapulae (HP:0006584)

........

Hypoplastic distal segments of scapulae (HP:0006631)

Sister Nodes:

Scapular aplasia (HP:0010317)

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:0000882	HP:0000882	Hypoplastic scapulae	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040281 - Very frequent	72
HP:0000882	HP:0000882	Hypoplastic scapulae	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.	72
HP:0000882	HP:0000882	Hypoplastic scapulae	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0000882	HP:0000882	Hypoplastic scapulae	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0000882	HP:0000882	Hypoplastic scapulae	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000882	HP:0000882	Hypoplastic scapulae	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0000882	HP:0000882	Hypoplastic scapulae	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0000882	HP:0000882	Hypoplastic scapulae	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000882	HP:0000882	Hypoplastic scapulae	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0000882	HP:0000882	Hypoplastic scapulae	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0000882	HP:0000882	Hypoplastic scapulae	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000882	HP:0000882	Hypoplastic scapulae	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0000882	HP:0000882	Hypoplastic scapulae	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0000882	HP:0000882	Hypoplastic scapulae	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0000882	HP:0000882	Hypoplastic scapulae	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0000882	HP:0000882	Hypoplastic scapulae	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0000882	HP:0000882	Hypoplastic scapulae	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000882	HP:0000882	Hypoplastic scapulae	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0000882	HP:0000882	Hypoplastic scapulae	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000882	HP:0000882	Hypoplastic scapulae	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	HP:0040283 - Occasional	34
HP:0000882	HP:0000882	Hypoplastic scapulae	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	HP:0040283 - Occasional	531
HP:0000882	HP:0000882	Hypoplastic scapulae	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000882	HP:0000882	Hypoplastic scapulae	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000882	HP:0000882	Hypoplastic scapulae	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	HP:0040283 - Occasional	69
HP:0000882	HP:0000882	Hypoplastic scapulae	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0000882	HP:0000882	Hypoplastic scapulae	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000882	HP:0000882	Hypoplastic scapulae	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0000882	HP:0000882	Hypoplastic scapulae	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000882	HP:0000882	Hypoplastic scapulae	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000882	HP:0000882	Hypoplastic scapulae	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0000882	HP:0000882	Hypoplastic scapulae	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0000882	HP:0000882	Hypoplastic scapulae	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0000882	HP:0000882	Hypoplastic scapulae	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0000882	HP:0000882	Hypoplastic scapulae	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0000882	HP:0000882	Hypoplastic scapulae	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040280 - Obligate	5
HP:0000882	HP:0000882	Hypoplastic scapulae	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0000882	HP:0000882	Hypoplastic scapulae	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0000882	HP:0000882	Hypoplastic scapulae	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0000882	HP:0006631	Hypoplastic distal segments of scapulae	1	CL E G H
HP:0000882	HP:0006584	Small abnormally formed scapulae	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0000882	HP:0006584	Small abnormally formed scapulae	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0000882	HP:0006584	Small abnormally formed scapulae	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109

Genes (29) :ACTB COL11A1 COL11A2 COL2A1 DLK1 DYM FGFR1 FGFR3 FIG4 FLNA GNPTAB GSC INPPL1 MEG3 NSDHL PCNT POR PSMB8 RIPK4 RSPO2 RTL1 RUNX2 SCARF2 SLC35D1 SOX9 TBX15 TBX3 TRIP11 WDR35

Diseases (34) :ORPHA:79107 OMIM:607371 ORPHA:440354 ORPHA:2021 OMIM:228520 ORPHA:85166 ORPHA:96334 OMIM:223800 OMIM:607326 OMIM:166250 OMIM:187600 OMIM:187601 OMIM:216340 OMIM:309350 OMIM:252500 OMIM:602471 ORPHA:3144 OMIM:308050 OMIM:210720 ORPHA:95699 OMIM:256040 OMIM:263650 OMIM:618022 ORPHA:1452 OMIM:119600 OMIM:600920 OMIM:269250 ORPHA:140 OMIM:114290 OMIM:260660 ORPHA:93333 OMIM:181450 OMIM:200600 OMIM:614091

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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