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 thorax morphology (HP:0000765)

Parent Node:
Abnormal scapula morphology (HP:0000782)

..Starting node
..Sprengel anomaly (HP:0000912)

Term ID:

912

Name:

Sprengel anomaly

Synonym:

Congenital, upward displacement of the scapula; High scapula; High shoulder blade; Sprengel deformity

Definition:

A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).

Comments:

Reference:

HP:0000912

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the glenoid fossa (HP:0011912)

Aplasia/Hypoplasia of the scapulae (HP:0006713)

Horizontal inferior border of scapula (HP:0031233)

Scapular exostoses (HP:0000918)

Scapular winging (HP:0003691)

Scapulohumeral synostosis (HP:0006595)

Sclerotic scapulae (HP:0001474)

Thickening of the lateral border of the scapula (HP:0006650)

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:0000912	HP:0000912	Sprengel anomaly	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000912	HP:0000912	Sprengel anomaly	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	276
HP:0000912	HP:0000912	Sprengel anomaly	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000912	HP:0000912	Sprengel anomaly	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0000912	HP:0000912	Sprengel anomaly	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0000912	HP:0000912	Sprengel anomaly	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0000912	HP:0000912	Sprengel anomaly	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	107
HP:0000912	HP:0000912	Sprengel anomaly	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	68
HP:0000912	HP:0000912	Sprengel anomaly	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0000912	HP:0000912	Sprengel anomaly	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	29
HP:0000912	HP:0000912	Sprengel anomaly	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent	7
HP:0000912	HP:0000912	Sprengel anomaly	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent	64
HP:0000912	HP:0000912	Sprengel anomaly	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0000912	HP:0000912	Sprengel anomaly	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0000912	HP:0000912	Sprengel anomaly	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0000912	HP:0000912	Sprengel anomaly	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0000912	HP:0000912	Sprengel anomaly	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0000912	HP:0000912	Sprengel anomaly	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040282 - Frequent	5
HP:0000912	HP:0000912	Sprengel anomaly	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.	5
HP:0000912	HP:0000912	Sprengel anomaly	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0000912	HP:0000912	Sprengel anomaly	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional	59
HP:0000912	HP:0000912	Sprengel anomaly	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0000912	HP:0000912	Sprengel anomaly	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0000912	HP:0000912	Sprengel anomaly	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0000912	HP:0000912	Sprengel anomaly	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	291
HP:0000912	HP:0000912	Sprengel anomaly	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent	212
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	11
HP:0000912	HP:0000912	Sprengel anomaly	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	40
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	26
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	5
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	42
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	22
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	3
HP:0000912	HP:0000912	Sprengel anomaly	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	20
HP:0000912	HP:0000912	Sprengel anomaly	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040282 - Frequent
HP:0000912	HP:0000912	Sprengel anomaly	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0000912	HP:0000912	Sprengel anomaly	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0000912	HP:0000912	Sprengel anomaly	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	1129
HP:0000912	HP:0000912	Sprengel anomaly	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	508
HP:0000912	HP:0000912	Sprengel anomaly	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000912	HP:0000912	Sprengel anomaly	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional	100
HP:0000912	HP:0000912	Sprengel anomaly	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0000912	HP:0000912	Sprengel anomaly	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0000912	HP:0000912	Sprengel anomaly	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000912	HP:0000912	Sprengel anomaly	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	171
HP:0000912	HP:0000912	Sprengel anomaly	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional	1
HP:0000912	HP:0000912	Sprengel anomaly	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL

Genes (53) :ADA2 BRAF CDH2 COL3A1 EFNB1 EMD FHL1 FLNA GATA1 GDF3 GDF6 HSPG2 LMNA MAP3K7 MEOX1 NPR2 PAX3 PTCH1 PTCH2 PTPN11 RAF1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SEPTIN9 SF3B4 SUFU SYNE1 SYNE2 TBX2 TBX3 TBX5 TMCO1 TMEM43 TSR2 WBP11

Diseases (27) :ORPHA:124 ORPHA:500 OMIM:618929 ORPHA:286 ORPHA:1520 OMIM:304110 ORPHA:98863 ORPHA:1826 ORPHA:2345 OMIM:118100 ORPHA:800 ORPHA:98853 ORPHA:98855 OMIM:214300 ORPHA:40 ORPHA:894 OMIM:193500 OMIM:109400 OMIM:612562 ORPHA:2901 ORPHA:1788 OMIM:618223 ORPHA:3138 ORPHA:392 ORPHA:1394 OMIM:213980 OMIM:619227

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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