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 voice (HP:0001608)

Parent Node:
Abnormal cry (HP:0025429)

..Starting node
..Weak cry (HP:0001612)

Term ID:

1612

Name:

Weak cry

Synonym:

Definition:

Comments:

Reference:

HP:0001612

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cat cry (HP:0200046)

High-pitched cry (HP:0025430)

Staccato cry (HP:0025431)

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:0001612	HP:0001612	Weak cry	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0001612	HP:0001612	Weak cry	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	127
HP:0001612	HP:0001612	Weak cry	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0001612	HP:0001612	Weak cry	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0001612	HP:0001612	Weak cry	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0001612	HP:0001612	Weak cry	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0001612	HP:0001612	Weak cry	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	65
HP:0001612	HP:0001612	Weak cry	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0001612	HP:0001612	Weak cry	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0001612	HP:0001612	Weak cry	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0001612	HP:0001612	Weak cry	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	6
HP:0001612	HP:0001612	Weak cry	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0001612	HP:0001612	Weak cry	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0001612	HP:0001612	Weak cry	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0001612	HP:0001612	Weak cry	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.	46
HP:0001612	HP:0001612	Weak cry	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001612	HP:0001612	Weak cry	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0001612	HP:0001612	Weak cry	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0001612	HP:0001612	Weak cry	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0001612	HP:0001612	Weak cry	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0001612	HP:0001612	Weak cry	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001612	HP:0001612	Weak cry	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001612	HP:0001612	Weak cry	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0001612	HP:0001612	Weak cry	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0001612	HP:0001612	Weak cry	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0001612	HP:0001612	Weak cry	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0001612	HP:0001612	Weak cry	0	LAMA3 CL E G H	3909	6483	OMIM:245660	Laryngoonychocutaneous syndrome	.	116
HP:0001612	HP:0001612	Weak cry	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92
HP:0001612	HP:0001612	Weak cry	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001612	HP:0001612	Weak cry	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0001612	HP:0001612	Weak cry	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome		63
HP:0001612	HP:0001612	Weak cry	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0001612	HP:0001612	Weak cry	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001612	HP:0001612	Weak cry	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0001612	HP:0001612	Weak cry	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0001612	HP:0001612	Weak cry	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14		214
HP:0001612	HP:0001612	Weak cry	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0001612	HP:0001612	Weak cry	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001612	HP:0001612	Weak cry	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0001612	HP:0001612	Weak cry	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0001612	HP:0001612	Weak cry	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040282 - Frequent	1200
HP:0001612	HP:0001612	Weak cry	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0001612	HP:0001612	Weak cry	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0001612	HP:0001612	Weak cry	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0001612	HP:0001612	Weak cry	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001612	HP:0001612	Weak cry	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	28
HP:0001612	HP:0001612	Weak cry	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	9
HP:0001612	HP:0001612	Weak cry	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001612	HP:0001612	Weak cry	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent	37
HP:0001612	HP:0001612	Weak cry	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0001612	HP:0001612	Weak cry	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	4
HP:0001612	HP:0001612	Weak cry	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0001612	HP:0001612	Weak cry	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0001612	HP:0001612	Weak cry	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional	4
HP:0001612	HP:0001612	Weak cry	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001612	HP:0001612	Weak cry	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional	2
HP:0001612	HP:0001612	Weak cry	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001612	HP:0001612	Weak cry	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent	546

Genes (51) :ACTA1 AGRN ASAH1 ASPA ATRX CHAT CHRNA1 CHRNE COL13A1 COLQ COQ9 CRYAB EXOSC9 FKTN FTO FUZ GFPT1 GGPS1 HACD1 IGHMBP2 KDM6A KMT2D LAMA2 LAMA3 LAMB2 LYRM4 MAGEL2 MYH7 MYO9A NDUFS8 NIPBL OPA1 PEX19 PPP1R21 RAPSN RYR1 SELENON SIM1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SNRPN SYT2 TPM2 TPM3 TRIP4 TTC26 VAMP1 VARS1 VPS13B

Diseases (41) :OMIM:255310 ORPHA:98914 ORPHA:333 ORPHA:314911 OMIM:301040 OMIM:254210 OMIM:608930 OMIM:605809 OMIM:608931 OMIM:603034 ORPHA:98915 OMIM:614654 OMIM:613869 OMIM:618065 ORPHA:272 OMIM:612938 ORPHA:1136 OMIM:619518 OMIM:619967 OMIM:604320 OMIM:147920 ORPHA:258 OMIM:245660 OMIM:615595 ORPHA:398069 OMIM:615547 OMIM:618222 OMIM:122470 OMIM:616896 OMIM:614886 OMIM:619383 OMIM:618388 OMIM:616326 ORPHA:324581 ORPHA:398079 ORPHA:177907 OMIM:619461 ORPHA:486815 OMIM:619534 OMIM:617802 ORPHA:193

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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