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:
Impairment in personality functioning (HP:0031466)

Parent Node:
Inappropriate behavior (HP:0000719)

..Starting node
..Inappropriate crying (HP:0030215)

Term ID:

30215

Name:

Inappropriate crying

Synonym:

Inappropriate crying

Definition:

Uncontrolled episodes of crying, without apparent motivating stimuli.

Comments:

Reference:

HP:0030215

Genes and Diseases:

Child Nodes:

Sister Nodes:

Inappropriate laughter (HP:0000748)

Inappropriate sexual behavior (HP:0008768)

Socially inappropriate behavior (HP:0030220)

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:0030215	HP:0030215	Inappropriate crying	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0030215	HP:0030215	Inappropriate crying	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0030215	HP:0030215	Inappropriate crying	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0030215	HP:0030215	Inappropriate crying	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0030215	HP:0030215	Inappropriate crying	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0030215	HP:0030215	Inappropriate crying	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	160
HP:0030215	HP:0030215	Inappropriate crying	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040283 - Occasional	119
HP:0030215	HP:0030215	Inappropriate crying	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0030215	HP:0030215	Inappropriate crying	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0030215	HP:0030215	Inappropriate crying	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0030215	HP:0030215	Inappropriate crying	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0030215	HP:0030215	Inappropriate crying	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0030215	HP:0030215	Inappropriate crying	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent	81
HP:0030215	HP:0030215	Inappropriate crying	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent	27
HP:0030215	HP:0030215	Inappropriate crying	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0030215	HP:0030215	Inappropriate crying	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent	110
HP:0030215	HP:0030215	Inappropriate crying	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0030215	HP:0030215	Inappropriate crying	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO

Genes (18) :ALG9 CDKL5 FOCAD FOXG1 GABBR2 GALC IQSEC2 KIF15 MECP2 NTNG1 PHGDH PIGS PSAP PSAT1 SLC18A2 SLC19A3 SMC1A TBC1D2B

Diseases (13) :ORPHA:79328 ORPHA:3095 OMIM:619991 OMIM:613454 ORPHA:206436 ORPHA:397933 ORPHA:261323 ORPHA:79351 OMIM:618143 ORPHA:284417 ORPHA:352649 ORPHA:263410 OMIM:619323

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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