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 cellular phenotype (HP:0025354)

Parent Node:
Abnormal cell morphology (HP:0025461)

..Starting node
..Abnormal chromosome morphology (HP:0031411)

Term ID:

31411

Name:

Abnormal chromosome morphology

Synonym:

Definition:

Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.

Comments:

Reference:

HP:0031411

Genes and Diseases:

Child Nodes:

........

Abnormal telomere morphology (HP:0031412)

................... HP:0031413 Short telomere length

Sister Nodes:

Abnormal buccal mucosa cell morphology (HP:0031476)

Abnormal cardiomyocyte morphology (HP:0031331)

Abnormal Langerhans cell morphology (HP:0031871)

Abnormal lysosomal morphology (HP:0031340)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6	1
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	26
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4	26
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	23
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3	77
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1	238
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	60
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	60
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	TYMS CL E G H	7298	12441	OMIM:620040		1
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	40
HP:0031411	HP:0031411	Abnormal chromosome morphology	0	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5	1
HP:0031411	HP:0031412	Abnormal telomere morphology	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6	1
HP:0031411	HP:0031412	Abnormal telomere morphology	1	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	26
HP:0031411	HP:0031412	Abnormal telomere morphology	1	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4	26
HP:0031411	HP:0031412	Abnormal telomere morphology	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	23
HP:0031411	HP:0031412	Abnormal telomere morphology	1	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0031411	HP:0031412	Abnormal telomere morphology	1	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3	77
HP:0031411	HP:0031412	Abnormal telomere morphology	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1	238
HP:0031411	HP:0031412	Abnormal telomere morphology	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	60
HP:0031411	HP:0031412	Abnormal telomere morphology	1	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	60
HP:0031411	HP:0031412	Abnormal telomere morphology	1	TYMS CL E G H	7298	12441	OMIM:620040		1
HP:0031411	HP:0031412	Abnormal telomere morphology	1	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	40
HP:0031411	HP:0031412	Abnormal telomere morphology	1	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5	1
HP:0031411	HP:0031413	Short telomere length	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6	1
HP:0031411	HP:0031413	Short telomere length	2	PARN CL E G H	5073	8609	OMIM:616353	Dyskeratosis congenita, autosomal recessive 6	26
HP:0031411	HP:0031413	Short telomere length	2	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4	26
HP:0031411	HP:0031413	Short telomere length	2	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	23
HP:0031411	HP:0031413	Short telomere length	2	RPA1 CL E G H	6117	10289	OMIM:619767	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6
HP:0031411	HP:0031413	Short telomere length	2	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3	77
HP:0031411	HP:0031413	Short telomere length	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1	238
HP:0031411	HP:0031413	Short telomere length	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	60
HP:0031411	HP:0031413	Short telomere length	2	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	60
HP:0031411	HP:0031413	Short telomere length	2	TYMS CL E G H	7298	12441	OMIM:620040		1
HP:0031411	HP:0031413	Short telomere length	2	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	40
HP:0031411	HP:0031413	Short telomere length	2	ZCCHC8 CL E G H	55596	25265	OMIM:618674	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5; PFBMFT5	1

Genes (10) :MDM4 PARN POT1 RPA1 RTEL1 TERT TINF2 TYMS WRAP53 ZCCHC8

Diseases (12) :OMIM:618849 OMIM:616353 OMIM:616371 OMIM:616568 OMIM:619767 OMIM:616373 OMIM:614742 OMIM:613990 OMIM:268130 OMIM:620040 OMIM:613988 OMIM:618674

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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