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:
Abnormality of the mouth (HP:0000153)

Parent Node:
Abnormal oral morphology (HP:0031816)

..Starting node
..Pierre-Robin sequence (HP:0000201)

Term ID:

201

Name:

Pierre-Robin sequence

Synonym:

Pierre Robin sequence; Pierre-robin anomaly; Pierre-robin deformity; Pierre-robin malformation; Robin sequence

Definition:

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.

Comments:

Reference:

HP:0000201

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal inferior alveolar artery morphology (HP:3000054)

Abnormal mandible condylar process morphology (HP:3000077)

Abnormal mandible coronoid process morphology (HP:3000078)

Abnormal oral cavity morphology (HP:0000163)

Oral cleft (HP:0000202)

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:0000201	HP:0000201	Pierre-Robin sequence	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000201	HP:0000201	Pierre-Robin sequence	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000201	HP:0000201	Pierre-Robin sequence	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	HP:0040284 - Very rare	52
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0000201	HP:0000201	Pierre-Robin sequence	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0000201	HP:0000201	Pierre-Robin sequence	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000201	HP:0000201	Pierre-Robin sequence	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000201	HP:0000201	Pierre-Robin sequence	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000201	HP:0000201	Pierre-Robin sequence	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0000201	HP:0000201	Pierre-Robin sequence	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000201	HP:0000201	Pierre-Robin sequence	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0000201	HP:0000201	Pierre-Robin sequence	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0000201	HP:0000201	Pierre-Robin sequence	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000201	HP:0000201	Pierre-Robin sequence	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000201	HP:0000201	Pierre-Robin sequence	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000201	HP:0000201	Pierre-Robin sequence	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0000201	HP:0000201	Pierre-Robin sequence	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0000201	HP:0000201	Pierre-Robin sequence	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0000201	HP:0000201	Pierre-Robin sequence	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0000201	HP:0000201	Pierre-Robin sequence	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0000201	HP:0000201	Pierre-Robin sequence	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040281 - Very frequent	16
HP:0000201	HP:0000201	Pierre-Robin sequence	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000201	HP:0000201	Pierre-Robin sequence	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000201	HP:0000201	Pierre-Robin sequence	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0000201	HP:0000201	Pierre-Robin sequence	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	HP:0040284 - Very rare
HP:0000201	HP:0000201	Pierre-Robin sequence	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0000201	HP:0000201	Pierre-Robin sequence	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7

Genes (27) :AMER1 ANKRD17 BMP2 COG1 COL11A1 COL11A2 COL2A1 DGCR2 DGCR6 DGCR8 EIF4A3 ESS2 FLNA GRB10 KCNK4 KIF15 MAP3K7 MYMK MYMX PGM1 PIGA RBM10 SATB2 SCUBE3 SLC10A7 TBX1 YY1

Diseases (30) :OMIM:300373 OMIM:619504 OMIM:617877 ORPHA:263508 OMIM:611209 OMIM:154780 OMIM:604841 OMIM:215150 OMIM:184840 ORPHA:93296 ORPHA:485 OMIM:183900 OMIM:108300 OMIM:192430 OMIM:268305 ORPHA:90652 ORPHA:96182 OMIM:618381 OMIM:619981 OMIM:617137 OMIM:254940 ORPHA:1358 OMIM:614921 OMIM:300868 ORPHA:2886 OMIM:612313 ORPHA:251028 OMIM:619184 OMIM:618363 OMIM:617557

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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