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:
Anemia (HP:0001903)

Parent Node:
Anemia of inadequate production (HP:0010972)

..Starting node
..Microcytic anemia (HP:0001935)

Term ID:

1935

Name:

Microcytic anemia

Synonym:

Microcytic anaemia

Definition:

A kind of anemia in which the volume of the red blood cells is reduced.

Comments:

Reference:

HP:0001935

Genes and Diseases:

Child Nodes:

........

Hypochromic microcytic anemia (HP:0004840)

........

Normochromic microcytic anemia (HP:0004856)

Sister Nodes:

Hypochromic anemia (HP:0001931)

Hypoplastic anemia (HP:0001908)

Macrocytic anemia (HP:0001972)

Normochromic anemia (HP:0001895)

Normocytic anemia (HP:0001897)

Sideroblastic anemia (HP:0001924)

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:0001935	HP:0001935	Microcytic anemia	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0001935	HP:0001935	Microcytic anemia	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	178
HP:0001935	HP:0001935	Microcytic anemia	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0001935	HP:0001935	Microcytic anemia	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked		72
HP:0001935	HP:0001935	Microcytic anemia	0	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0001935	HP:0001935	Microcytic anemia	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040281 - Very frequent	169
HP:0001935	HP:0001935	Microcytic anemia	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0001935	HP:0001935	Microcytic anemia	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0001935	HP:0001935	Microcytic anemia	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001935	HP:0001935	Microcytic anemia	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001935	HP:0001935	Microcytic anemia	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional	5
HP:0001935	HP:0001935	Microcytic anemia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0001935	HP:0001935	Microcytic anemia	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V		25
HP:0001935	HP:0001935	Microcytic anemia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0001935	HP:0001935	Microcytic anemia	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	186
HP:0001935	HP:0001935	Microcytic anemia	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001935	HP:0001935	Microcytic anemia	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0001935	HP:0001935	Microcytic anemia	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional	145
HP:0001935	HP:0001935	Microcytic anemia	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	8
HP:0001935	HP:0001935	Microcytic anemia	0	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA		200
HP:0001935	HP:0001935	Microcytic anemia	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent	200
HP:0001935	HP:0001935	Microcytic anemia	0	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA		88
HP:0001935	HP:0001935	Microcytic anemia	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040281 - Very frequent	88
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent	580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome	HP:0040281 - Very frequent	580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040284 - Very rare	580
HP:0001935	HP:0001935	Microcytic anemia	0	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA		1
HP:0001935	HP:0001935	Microcytic anemia	0	HBD CL E G H	3045	4829	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent	52
HP:0001935	HP:0001935	Microcytic anemia	0	HBG1 CL E G H	3047	4831	ORPHA:231237	Delta-beta-thalassemia	HP:0040281 - Very frequent	35
HP:0001935	HP:0001935	Microcytic anemia	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0001935	HP:0001935	Microcytic anemia	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0001935	HP:0001935	Microcytic anemia	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001935	HP:0001935	Microcytic anemia	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001935	HP:0001935	Microcytic anemia	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0001935	HP:0001935	Microcytic anemia	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0001935	HP:0001935	Microcytic anemia	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001935	HP:0001935	Microcytic anemia	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0001935	HP:0001935	Microcytic anemia	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome		186
HP:0001935	HP:0001935	Microcytic anemia	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0001935	HP:0001935	Microcytic anemia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001935	HP:0001935	Microcytic anemia	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0001935	HP:0001935	Microcytic anemia	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0001935	HP:0001935	Microcytic anemia	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0001935	HP:0001935	Microcytic anemia	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0001935	HP:0001935	Microcytic anemia	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0001935	HP:0001935	Microcytic anemia	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001935	HP:0001935	Microcytic anemia	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001935	HP:0001935	Microcytic anemia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0001935	HP:0001935	Microcytic anemia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040282 - Frequent	71
HP:0001935	HP:0001935	Microcytic anemia	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001935	HP:0001935	Microcytic anemia	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent	504
HP:0001935	HP:0001935	Microcytic anemia	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0001935	HP:0001935	Microcytic anemia	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0001935	HP:0001935	Microcytic anemia	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent	80
HP:0001935	HP:0001935	Microcytic anemia	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001935	HP:0001935	Microcytic anemia	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040283 - Occasional	78
HP:0001935	HP:0001935	Microcytic anemia	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001935	HP:0001935	Microcytic anemia	0	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA		65
HP:0001935	HP:0001935	Microcytic anemia	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001935	HP:0001935	Microcytic anemia	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0001935	HP:0001935	Microcytic anemia	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.	72
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040281 - Very frequent	115
HP:0001935	HP:0004856	Normochromic microcytic anemia	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.	25
HP:0001935	HP:0004856	Normochromic microcytic anemia	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.	200
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.	88
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.	580
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA	.	580
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent	580
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent	580
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA	.	1
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA		65
HP:0001935	HP:0004840	Hypochromic microcytic anemia	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28

Genes (51) :ABCB7 ACVRL1 AGGF1 ALAS2 ATRX BCL11A C2ORF69 CARD10 CAT CP DNAJC19 ENG FARSA FDX2 FECH GDF2 HBA1 HBA2 HBB HBB-LCR HBD HBG1 HBG2 HSCB IL6ST IREB2 IRX5 KARS1 KLF1 LPIN2 OSTM1 PSMB8 PSTPIP1 PUS1 RIPK1 SHPK SLC25A10 SLC25A21 SLC29A3 SLC35C1 SLC37A4 SMAD4 SMPD1 SRD5A3 TAFAZZIN TEK TKFC TMPRSS6 TRNT1 WAS WIPF1

Diseases (54) :OMIM:301310 ORPHA:774 ORPHA:90308 OMIM:300751 OMIM:300448 ORPHA:231401 OMIM:301040 ORPHA:251380 OMIM:619423 OMIM:619632 ORPHA:926 ORPHA:48818 OMIM:610198 ORPHA:66634 OMIM:619013 OMIM:251900 ORPHA:79278 OMIM:604131 ORPHA:98791 OMIM:613985 ORPHA:231214 OMIM:603902 ORPHA:231237 ORPHA:231226 ORPHA:231242 ORPHA:2133 ORPHA:232 OMIM:619523 OMIM:619750 OMIM:618451 OMIM:611174 OMIM:619147 ORPHA:77297 OMIM:609628 OMIM:259720 OMIM:256040 OMIM:604416 OMIM:600462 OMIM:618852 ORPHA:440713 OMIM:618972 OMIM:618811 ORPHA:168569 ORPHA:99843 OMIM:619525 OMIM:257200 OMIM:612379 ORPHA:324737 OMIM:302060 ORPHA:1059 OMIM:618805 OMIM:206200 OMIM:616084 ORPHA:906

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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