HMAE
MCID: HMC042
MIFTS: 34

Homocystinuria-Megaloblastic Anemia, Cble Complementation Type (HMAE)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

MalaCards integrated aliases for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

Name: Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 57 72
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 57 40 29 6 70
Homocystinuria-Megaloblastic Anemia, Cbl E Type 57 13
Hmae 57 72
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cble Complementation Type 72
Anemia, Homocystinuria-Megaloblastic, Cble Complementation Type 39
Functional Methionine Synthase Deficiency Type Cble 58
Vitamin B12-Responsive Homocystinuria, Cble Type 57
Vitamin B12-Responsive Homocystinuria Cble Type 72
Methylcobalamin Deficiency, Cble Type 57
Methylcobalamin Deficiency Type Cble 58
Methylcobalamin Deficiency Cble Type 72

Characteristics:

Orphanet epidemiological data:

58
methylcobalamin deficiency type cble
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
symptoms are responsive to cobalamin treatment


HPO:

31
homocystinuria-megaloblastic anemia, cble complementation type:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

OMIM® : 57 Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase (MTR; 156570). Clinical features are somewhat variable, but include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE and CblG (250940) (Watkins and Rosenblatt, 1988). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996). CblG is caused by mutation in the MTR gene. (236270) (Updated 05-Apr-2021)

MalaCards based summary : Homocystinuria-Megaloblastic Anemia, Cble Complementation Type, also known as homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type, is related to homocystinuria-megaloblastic anemia cble type, and has symptoms including seizures An important gene associated with Homocystinuria-Megaloblastic Anemia, Cble Complementation Type is MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase). Affiliated tissues include bone marrow, bone and brain, and related phenotypes are megaloblastic bone marrow and hyperhomocystinemia

UniProtKB/Swiss-Prot : 72 Homocystinuria-megaloblastic anemia, cblE complementation type: An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. Cells from patients with HMAE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent.

Related Diseases for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Diseases related to Homocystinuria-Megaloblastic Anemia, Cble Complementation Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 homocystinuria-megaloblastic anemia cble type 11.0

Symptoms & Phenotypes for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Human phenotypes related to Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 megaloblastic bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0001980
2 hyperhomocystinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002160
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
8 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
11 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
12 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
13 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
14 loss of consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007185
15 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
16 macrocytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001972
17 increased mean corpuscular volume 58 31 frequent (33%) Frequent (79-30%) HP:0005518
18 drowsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002329
19 hypomethioninemia 58 31 frequent (33%) Frequent (79-30%) HP:0003658
20 seizure 31 frequent (33%) HP:0001250
21 hypotonia 31 frequent (33%) HP:0001252
22 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
23 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
24 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
25 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
26 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
27 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
28 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
29 glomerulopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100820
30 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
31 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
32 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
33 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
34 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
35 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
36 clinodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030084
37 deep venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002625
38 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
39 syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001159
40 thromboembolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001907
41 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
42 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
43 lower limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006895
44 hemolytic-uremic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0005575
45 blindness 31 occasional (7.5%) HP:0000618
46 excessive daytime somnolence 31 occasional (7.5%) HP:0001262
47 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
48 seizures 58 Frequent (79-30%)
49 gait disturbance 31 HP:0001288
50 muscular hypotonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
cerebral atrophy
hypotonia
abnormal gait
delayed psychomotor development

Hematology:
megaloblastic anemia

Muscle Soft Tissue:
hypotonia

Growth Other:
failure to thrive

Laboratory Abnormalities:
hyperhomocystinemia
hypomethioninemia
homocystinuria

Head And Neck Eyes:
nystagmus (in some patients)
blindness (in some patients)

Clinical features from OMIM®:

236270 (Updated 05-Apr-2021)

UMLS symptoms related to Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:


seizures

Drugs & Therapeutics for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Search Clinical Trials , NIH Clinical Center for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Genetic Tests for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Genetic tests related to Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

# Genetic test Affiliating Genes
1 Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type 29 MTRR

Anatomical Context for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

MalaCards organs/tissues related to Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

40
Bone Marrow, Bone, Brain, Liver, Eye

Publications for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Articles related to Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

(show all 17)
# Title Authors PMID Year
1
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 57 6
15714522 2005
2
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. 6 57
12555939 2002
3
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. 6 57
9501215 1998
4
Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). 6 57
2860337 1985
5
Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism. 57 6
6700644 1984
6
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. 6
30041674 2018
7
Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation. 6
25978498 2016
8
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. 6
25526710 2015
9
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects. 6
22887477 2013
10
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. 6
20120036 2010
11
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. 6
12971424 2003
12
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. 6
10484769 1999
13
Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease). 57
9427140 1997
14
Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. 57
8968737 1996
15
Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. 57
3384945 1988
16
Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis. 57
6511919 1984
17
Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. 6
1060915 1976

Variations for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

ClinVar genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

6 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTRR NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) Deletion Pathogenic 650093 rs1579758005 GRCh37: 5:7889244-7889245
GRCh38: 5:7889131-7889132
2 MTRR NM_002454.3(MTRR):c.270del (p.Tyr91fs) Deletion Pathogenic 650561 rs1579619636 GRCh37: 5:7873625-7873625
GRCh38: 5:7873512-7873512
3 MTRR NM_002454.3(MTRR):c.903+469T>C SNV Pathogenic 662553 rs893229476 GRCh37: 5:7883859-7883859
GRCh38: 5:7883746-7883746
4 MTRR MTRR, 4-BP DEL, NT1675 Deletion Pathogenic 7027 GRCh37:
GRCh38:
5 MTRR MTRR, 3-BP DEL, 1726TTG Deletion Pathogenic 7028 GRCh37:
GRCh38:
6 MTRR NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) SNV Pathogenic 7030 rs137853061 GRCh37: 5:7892928-7892928
GRCh38: 5:7892815-7892815
7 MTRR MTRR, 2-BP INS, 1623TA Insertion Pathogenic 7031 GRCh37:
GRCh38:
8 MTRR MTRR, 140-BP INS, NT903 Insertion Pathogenic 7032 GRCh37:
GRCh38:
9 MTRR NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) SNV Pathogenic 7033 rs137853062 GRCh37: 5:7891518-7891518
GRCh38: 5:7891405-7891405
10 MTRR NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) SNV Pathogenic 522636 rs1554006017 GRCh37: 5:7892848-7892848
GRCh38: 5:7892735-7892735
11 MTRR NC_000005.10:g.(?_7869114)_(7900078_?)del Deletion Pathogenic 831783 GRCh37: 5:7869227-7900191
GRCh38:
12 MTRR NC_000005.10:g.(?_7877934)_(7878332_?)del Deletion Pathogenic 833249 GRCh37: 5:7878047-7878445
GRCh38:
13 MTRR NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) SNV Pathogenic 841408 GRCh37: 5:7878421-7878421
GRCh38: 5:7878308-7878308
14 MTRR NM_002454.3(MTRR):c.230del (p.Gln77fs) Deletion Pathogenic 933492 GRCh37: 5:7873586-7873586
GRCh38: 5:7873473-7873473
15 MTRR NM_002454.3(MTRR):c.741del (p.Glu248fs) Deletion Pathogenic 937263 GRCh37: 5:7878396-7878396
GRCh38: 5:7878283-7878283
16 MTRR NM_002454.3(MTRR):c.109dup (p.Cys37fs) Duplication Pathogenic 937324 GRCh37: 5:7871015-7871016
GRCh38: 5:7870902-7870903
17 MTRR NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) Deletion Pathogenic 962353 GRCh37: 5:7889224-7889249
GRCh38: 5:7889111-7889136
18 MTRR NM_002454.3(MTRR):c.740del (p.Pro247fs) Deletion Pathogenic 953925 GRCh37: 5:7878391-7878391
GRCh38: 5:7878278-7878278
19 MTRR NM_002454.3(MTRR):c.734del (p.Leu245fs) Deletion Pathogenic 953969 GRCh37: 5:7878387-7878387
GRCh38: 5:7878274-7878274
20 MTRR NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) Indel Pathogenic 942343 GRCh37: 5:7889216-7889217
GRCh38: 5:7889103-7889104
21 MTRR NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) Microsatellite Pathogenic 631967 rs768980918 GRCh37: 5:7896975-7896978
GRCh38: 5:7896862-7896865
22 MTRR NM_002454.3(MTRR):c.324del (p.Lys109fs) Deletion Pathogenic 809730 rs1189298981 GRCh37: 5:7875406-7875406
GRCh38: 5:7875293-7875293
23 MTRR NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) SNV Pathogenic 968210 GRCh37: 5:7889313-7889313
GRCh38: 5:7889200-7889200
24 MTRR NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) SNV Pathogenic 265421 rs147277149 GRCh37: 5:7895862-7895862
GRCh38: 5:7895749-7895749
25 MTRR NM_002454.3(MTRR):c.1769+1G>A SNV Likely pathogenic 835400 GRCh37: 5:7897070-7897070
GRCh38: 5:7896957-7896957
26 MTRR NM_002454.3(MTRR):c.973_1146+462del Deletion Likely pathogenic 954026 GRCh37: 5:7885880-7887275
GRCh38: 5:7885767-7887162
27 MTRR NM_002454.3(MTRR):c.1371-1G>A SNV Likely pathogenic 959808 GRCh37: 5:7892839-7892839
GRCh38: 5:7892726-7892726
28 MTRR NM_002454.3(MTRR):c.283+1_283+20del Deletion Likely pathogenic 936122 GRCh37: 5:7873639-7873658
GRCh38: 5:7873526-7873545
29 MTRR NM_002454.3(MTRR):c.1A>G (p.Met1Val) SNV Likely pathogenic 854617 GRCh37: 5:7870908-7870908
GRCh38: 5:7870795-7870795
30 MTRR NM_002454.3(MTRR):c.402-1G>T SNV Likely pathogenic 840253 GRCh37: 5:7878056-7878056
GRCh38: 5:7877943-7877943
31 MTRR NC_000005.10:g.(?_7883145)_(7892923_?)del Deletion Likely pathogenic 832885 GRCh37: 5:7883258-7893036
GRCh38:
32 MTRR NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) SNV Uncertain significance 534626 rs769915505 GRCh37: 5:7889307-7889307
GRCh38: 5:7889194-7889194
33 MTRR NM_002454.3(MTRR):c.1165G>A (p.Val389Met) SNV Uncertain significance 548477 rs774333382 GRCh37: 5:7889226-7889226
GRCh38: 5:7889113-7889113
34 MTRR NM_002454.3(MTRR):c.209G>A (p.Arg70His) SNV Uncertain significance 466268 rs777202031 GRCh37: 5:7873565-7873565
GRCh38: 5:7873452-7873452
35 MTRR NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) SNV Uncertain significance 938129 GRCh37: 5:7892961-7892961
GRCh38: 5:7892848-7892848
36 MTRR NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) SNV Uncertain significance 945606 GRCh37: 5:7897226-7897226
GRCh38: 5:7897113-7897113
37 MTRR NM_002454.3(MTRR):c.99A>C (p.Ala33=) SNV Uncertain significance 992053 GRCh37: 5:7871006-7871006
GRCh38: 5:7870893-7870893
38 MTRR NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) SNV Uncertain significance 992054 GRCh37: 5:7873576-7873576
GRCh38: 5:7873463-7873463
39 MTRR NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) SNV Uncertain significance 966720 GRCh37: 5:7878060-7878060
GRCh38: 5:7877947-7877947
40 MTRR NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) SNV Uncertain significance 967480 GRCh37: 5:7883350-7883350
GRCh38: 5:7883237-7883237
41 MTRR NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) SNV Uncertain significance 968883 GRCh37: 5:7897197-7897197
GRCh38: 5:7897084-7897084
42 MTRR NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) SNV Uncertain significance 969522 GRCh37: 5:7886790-7886790
GRCh38: 5:7886677-7886677
43 MTRR NM_002454.3(MTRR):c.505G>A (p.Val169Met) SNV Uncertain significance 354352 rs147742177 GRCh37: 5:7878160-7878160
GRCh38: 5:7878047-7878047
44 MTRR NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) SNV Uncertain significance 354346 rs202110383 GRCh37: 5:7875433-7875433
GRCh38: 5:7875320-7875320
45 MTRR NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) SNV Uncertain significance 194496 rs148414435 GRCh37: 5:7900145-7900145
GRCh38: 5:7900032-7900032
46 MTRR NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) SNV Uncertain significance 992056 GRCh37: 5:7891521-7891521
GRCh38: 5:7891408-7891408
47 MTRR NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) SNV Uncertain significance 992057 GRCh37: 5:7892959-7892959
GRCh38: 5:7892846-7892846
48 MTRR NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) SNV Uncertain significance 992058 GRCh37: 5:7897017-7897017
GRCh38: 5:7896904-7896904
49 MTRR NM_002454.3(MTRR):c.1998A>G (p.Gln666=) SNV Uncertain significance 992059 GRCh37: 5:7900072-7900072
GRCh38: 5:7899959-7899959
50 MTRR NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) SNV Uncertain significance 1033921 GRCh37: 5:7895931-7895931
GRCh38: 5:7895818-7895818

UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type:

72
# Symbol AA change Variation ID SNP ID
1 MTRR p.Val56Met VAR_012838 rs761061866
2 MTRR p.Ala129Thr VAR_012839
3 MTRR p.Cys405Arg VAR_012841
4 MTRR p.Gly487Arg VAR_012842 rs137853061
5 MTRR p.Gly554Arg VAR_015731

Expression for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Search GEO for disease gene expression data for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type.

Pathways for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

GO Terms for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

Sources for Homocystinuria-Megaloblastic Anemia, Cble Complementation Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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