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:
Leukemia (HP:0001909)

Parent Node:
Acute leukemia (HP:0002488)

..Starting node
..Acute lymphoblastic leukemia (HP:0006721)

Term ID:

6721

Name:

Acute lymphoblastic leukemia

Synonym:

Acute lymphatic leukaemia; Acute lymphatic leukemia; Acute lymphoblastic leukaemia; Acute lymphocytic leukaemia; Acute lymphocytic leukemia; Acute lymphoid leukaemia; Acute lymphoid leukemia

Definition:

A form of acute leukemia characterized by excess lympoblasts.

Comments:

Reference:

HP:0006721

Genes and Diseases:

Child Nodes:

........

B Acute Lymphoblastic Leukemia (HP:0004812)

........

Ph-positive acute lymphoblastic leukemia (HP:0004848)

........

T-cell acute lymphoblastic leukemias (HP:0006727)

Sister Nodes:

Acute megakaryocytic leukemia (HP:0006733)

Acute monocytic leukemia (HP:0004845)

Acute myeloid leukemia (HP:0004808)

Acute myelomonocytic leukemia (HP:0004820)

Acute promyelocytic leukemia (HP:0004836)

Biphenotypic acute leukemia (HP:0005531)

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:0006721	HP:0006721	Acute lymphoblastic leukemia	0	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid		51
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BAX CL E G H	581	959	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	4
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BCR CL E G H	613	1014	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	5
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid		5
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	38
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	DUT CL E G H	1854	3078	OMIM:620044
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	79
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	FLT3 CL E G H	2322	3765	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	61
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	56
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	GNB1 CL E G H	2782	4396	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	12
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	HAX1 CL E G H	10456	16915	OMIM:610738	NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3		32
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	NBN CL E G H	4683	7652	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	706
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	NUP214 CL E G H	8021	8064	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.	1
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	TAL1 CL E G H	6886	11556	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	TAL2 CL E G H	6887	11557	OMIM:613065	Leukemia, acute lymphocytic, susceptibility to, 1	.
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional	82
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0006721	HP:0006721	Acute lymphoblastic leukemia	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0006721	HP:0004848	Ph-positive acute lymphoblastic leukemia	1	ABL1 CL E G H	25	76	OMIM:608232	Leukemia, chronic myeloid	.	51
HP:0006721	HP:0004848	Ph-positive acute lymphoblastic leukemia	1	BCR CL E G H	613	1014	OMIM:608232	Leukemia, chronic myeloid	.	5
HP:0006721	HP:0006727	T-cell acute lymphoblastic leukemias	1	BRCA2 CL E G H	675	1101	OMIM:605724	Fanconi anemia, complementation group D1		7642
HP:0006721	HP:0006727	T-cell acute lymphoblastic leukemias	1	DUT CL E G H	1854	3078	OMIM:620044
HP:0006721	HP:0006727	T-cell acute lymphoblastic leukemias	1	MSH2 CL E G H	4436	7325	OMIM:619096	MISMATCH REPAIR CANCER SYNDROME 2; MMRCS2		2162
HP:0006721	HP:0004812	B Acute Lymphoblastic Leukemia	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2

Genes (37) :ABL1 APC2 ATM BAX BCR BLM BRCA2 BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 CLPB DUT ELANE FLT3 GFI1 GNB1 HAX1 IKZF1 LIG4 MDM2 MSH2 NBN NSD1 NSUN2 NUP214 PIGL SETD2 SRP54 TAL1 TAL2 TCF3 TCIRG1 TP53 TRIP13

Diseases (16) :OMIM:608232 ORPHA:821 OMIM:208900 OMIM:613065 ORPHA:125 OMIM:605724 ORPHA:1052 ORPHA:524 ORPHA:486 OMIM:620044 OMIM:610738 OMIM:616873 ORPHA:235 OMIM:619096 OMIM:280000 OMIM:619824

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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