IGHD1A
MCID: ISL014
MIFTS: 53

Isolated Growth Hormone Deficiency, Type Ia (IGHD1A)

Categories: Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Isolated Growth Hormone Deficiency, Type Ia

MalaCards integrated aliases for Isolated Growth Hormone Deficiency, Type Ia:

Name: Isolated Growth Hormone Deficiency, Type Ia 57
Primordial Dwarfism 57 12 53 75 29 6
Isolated Growth Hormone Deficiency Type Ia 12 53 59 75 15
Sexual Ateleiotic Dwarfism 57 12 53 75
Pituitary Dwarfism I 57 12 75 73
Ighd Ia 57 12 53 75
Growth Hormone Deficiency, Isolated, Type Ia 57 13 40
Illig-Type Growth Hormone Deficiency 57 12 75
Ighd1a 57 53 75
Congenital Isolated Growth Hormone Deficiency Type Ia 53 59
Congenital Isolated Gh Deficiency Type Ia 53 59
Congenital Ighd Type Ia 53 59
Pituitary Dwarfism 1 76 53
Growth Hormone Deficiency, Isolated, Autosomal Recessive 57
Growth Hormone Deficiency, Isolated Autosomal Recessive 53
Autosomal Recessive Isolated Growth Hormone Deficiency 12
Growth Hormone Deficiency Isolated Autosomal Recessive 75
Non-Acquired Isolated Growth Hormone Deficiency 53
Congenital Isolated Growth Hormone Deficiency 53
Isolated Growth Hormone Deficiency Type 1a 53
Growth Hormone Deficiency, Isolated, 1a 75
Illig Type Growth Hormone Deficiency 53
Congenital Isolated Gh Deficiency 53
Dwarfism, Primordial 40
Congenital Ighd 53
Dwarfism 73

Characteristics:

Orphanet epidemiological data:

59
isolated growth hormone deficiency type ia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
isolated growth hormone deficiency, type ia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Isolated Growth Hormone Deficiency, Type Ia

OMIM : 57 Isolated growth hormone deficiency type IA is an autosomal recessive disorder characterized by severe growth failure (SDS less than -4.5) by 6 months of age, undetectable growth hormone (GH) concentrations, and a tendency to develop antibodies despite an initial good response to rhGH treatment (summary by Alatzoglou et al., 2014). (262400)

MalaCards based summary : Isolated Growth Hormone Deficiency, Type Ia, also known as primordial dwarfism, is related to microcephalic osteodysplastic primordial dwarfism, type ii and microcephalic osteodysplastic primordial dwarfism, type i, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Isolated Growth Hormone Deficiency, Type Ia is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Cell Cycle Checkpoints. Affiliated tissues include pituitary, bone and brain, and related phenotypes are delayed skeletal maturation and short stature

Disease Ontology : 12 An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3.

UniProtKB/Swiss-Prot : 75 Growth hormone deficiency, isolated, 1A: An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone.

Wikipedia : 76 Growth hormone deficiency (GHD) is a medical condition due to not enough growth hormone (GH). Generally... more...

Related Diseases for Isolated Growth Hormone Deficiency, Type Ia

Diseases related to Isolated Growth Hormone Deficiency, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 microcephalic osteodysplastic primordial dwarfism, type ii 34.4 CNTLN PCNT
2 microcephalic osteodysplastic primordial dwarfism, type i 34.4 PCNT RNPC3 RNU4ATAC
3 seckel syndrome 32.4 CNTLN DNA2 ORC4 ORC6 PCNT RNU4ATAC
4 meier-gorlin syndrome 1 32.2 CDC6 CDT1 ORC4 ORC6 PCNT RNU4ATAC
5 dwarfism 31.6 CRIPT DNA2 GH1 PCNT RNU4ATAC
6 microcephaly 29.9 CDC6 CDT1 CRIPT ORC4 ORC6 RNU4ATAC
7 microcephalic primordial dwarfism, toriello type 12.7
8 microcephalic primordial dwarfism, montreal type 12.5
9 microcephalic osteodysplastic primordial dwarfism, type iii 12.5
10 microcephalic primordial dwarfism-insulin resistance syndrome 12.2
11 alazami syndrome 12.1
12 seckel syndrome 1 11.8
13 isolated growth hormone deficiency 11.7
14 seckel syndrome 2 11.4
15 laron syndrome 11.4
16 isolated growth hormone deficiency, type ib 11.4
17 microcephaly 10, primary, autosomal recessive 11.4
18 isolated growth hormone deficiency, type ii 11.3
19 isolated growth hormone deficiency type iii 11.3
20 microcephaly, short stature, and polymicrogyria with or without seizures 11.2
21 seckel syndrome 7 11.2
22 silver-russell syndrome 11.2
23 meier-gorlin syndrome 2 11.2
24 meier-gorlin syndrome 3 11.2
25 meier-gorlin syndrome 4 11.2
26 meier-gorlin syndrome 5 11.2
27 meier-gorlin syndrome 6 11.2
28 meier-gorlin syndrome 7 11.2
29 meier-gorlin syndrome 8 11.2
30 moyamoya disease 1 10.3
31 growth hormone deficiency 10.3
32 seckel syndrome 4 10.1 CNTLN PCNT
33 microtia 10.1 ORC4 ORC6
34 schizophrenia 10.1
35 dubowitz syndrome 10.1
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 craniosynostosis 10.1
38 primary microcephaly 10.1
39 isolated ectopia lentis 10.1
40 osteopoikilosis 10.1
41 cholestasis 10.1
42 cerebrovascular disease 10.1
43 12q14 microdeletion syndrome 10.1
44 neuronal migration disorders 10.1
45 microlissencephaly 10.1
46 insulin-like growth factor i 10.1
47 fallopian tube disease 10.0 BRCA2 POC1A
48 genitourinary tract anomalies 9.9 CDC6 CDT1 ORC4 ORC6

Graphical network of the top 20 diseases related to Isolated Growth Hormone Deficiency, Type Ia:



Diseases related to Isolated Growth Hormone Deficiency, Type Ia

Symptoms & Phenotypes for Isolated Growth Hormone Deficiency, Type Ia

Symptoms via clinical synopsis from OMIM:

57
Metabolic:
hypoglycemia

Growth:
sexual ateleiotic dwarfism

Immunol:
antibodies to administered growth hormone

Lab:
isolated growth hormone deficiency

Facies:
puppet (baby doll) facies


Clinical features from OMIM:

262400

Human phenotypes related to Isolated Growth Hormone Deficiency, Type Ia:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 hallmark (90%) HP:0002750
2 short stature 32 hallmark (90%) HP:0004322
3 hypoglycemia 32 HP:0001943
4 anterior hypopituitarism 32 hallmark (90%) HP:0000830
5 abnormality of the face 32 HP:0000271
6 abnormality of the immune system 32 HP:0002715
7 severe short stature 32 HP:0003510
8 pituitary dwarfism 32 HP:0000839

UMLS symptoms related to Isolated Growth Hormone Deficiency, Type Ia:


back pain, sciatica, muscle cramp

GenomeRNAi Phenotypes related to Isolated Growth Hormone Deficiency, Type Ia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 BRCA2 CDT1 DNA2 WDR4 XRCC4

Drugs & Therapeutics for Isolated Growth Hormone Deficiency, Type Ia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II Completed NCT03139903
2 New Variants Involved in Taybi-Linder Syndrome Not yet recruiting NCT03222947

Search NIH Clinical Center for Isolated Growth Hormone Deficiency, Type Ia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Isolated Growth Hormone Deficiency, Type Ia

Genetic tests related to Isolated Growth Hormone Deficiency, Type Ia:

# Genetic test Affiliating Genes
1 Primordial Dwarfism 29

Anatomical Context for Isolated Growth Hormone Deficiency, Type Ia

MalaCards organs/tissues related to Isolated Growth Hormone Deficiency, Type Ia:

41
Pituitary, Bone, Brain, Skin, Kidney, Heart

Publications for Isolated Growth Hormone Deficiency, Type Ia

Articles related to Isolated Growth Hormone Deficiency, Type Ia:

(show top 50) (show all 112)
# Title Authors Year
1
Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. ( 29961235 )
2018
2
Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia. ( 30531648 )
2018
3
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28409412 )
2017
4
Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. ( 28940990 )
2017
5
Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review. ( 28712007 )
2017
6
Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. ( 27169690 )
2016
7
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. ( 26595769 )
2016
8
Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies. ( 27611897 )
2016
9
Microcephalic osteodysplastic primordial dwarfism type 1. ( 27312855 )
2016
10
Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation. ( 27232581 )
2016
11
Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). ( 27591150 )
2016
12
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. ( 26641461 )
2016
13
Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II). ( 27241249 )
2016
14
Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC. ( 26419500 )
2016
15
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. ( 26608784 )
2015
16
Mutations in the NHEJ component XRCC4 cause primordial dwarfism. ( 25728776 )
2015
17
A novel cause for primordial dwarfism revealed: defective tRNA modification. ( 26429597 )
2015
18
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii. ( 26059803 )
2015
19
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. ( 26637980 )
2015
20
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. ( 26231886 )
2015
21
Primordial dwarfism: overview of clinical and genetic aspects. ( 26323792 )
2015
22
Primordial dwarfism: an update. ( 25490023 )
2015
23
Two novel POC1A mutations in the Primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. ( 26374189 )
2015
24
A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. ( 25735804 )
2015
25
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. ( 26416026 )
2015
26
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. ( 26162852 )
2015
27
Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient. ( 28955524 )
2015
28
Genomic analysis of primordial dwarfism reveals novel disease genes. ( 24389050 )
2014
29
Hip pathology in Majewski osteodysplastic primordial dwarfism type II. ( 24705347 )
2014
30
An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. ( 24741545 )
2014
31
Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. ( 25320347 )
2014
32
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. ( 24748105 )
2014
33
Primordial dwarfism gene maintains Lin28 expression to safeguard embryonic stem cells from premature differentiation. ( 24768001 )
2014
34
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. ( 24928221 )
2014
35
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. ( 25105364 )
2014
36
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. ( 24973050 )
2014
37
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. ( 24106199 )
2014
38
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency. ( 23612698 )
2013
39
Fracture healing of an osteodysplastic femur in a microcephalic osteodysplastic primordial dwarfism II (MOPD II) patient: a case report. ( 22773355 )
2013
40
Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal. ( 23498563 )
2013
41
"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II. ( 23337351 )
2013
42
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. ( 23794361 )
2013
43
Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami". ( 24551984 )
2013
44
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities. ( 24027040 )
2013
45
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. ( 22581640 )
2012
46
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). ( 22527565 )
2012
47
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. ( 21815888 )
2012
48
Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome. ( 22786707 )
2012
49
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. ( 22821869 )
2012
50
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. ( 22933543 )
2012

Variations for Isolated Growth Hormone Deficiency, Type Ia

ClinVar genetic disease variations for Isolated Growth Hormone Deficiency, Type Ia:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 GH1 GH1, 2-BP DEL, FS132TER deletion Pathogenic
2 GH1 NM_000515.4(GH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs137853219 GRCh37 Chromosome 17, 61995818: 61995818
3 GH1 NM_000515.4(GH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs137853219 GRCh38 Chromosome 17, 63918458: 63918458
4 GH1 GH1, 6.7-KB DEL deletion Pathogenic
5 GH1 GH1, 1-BP DEL, 371C deletion Pathogenic
6 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs397514487 GRCh37 Chromosome 3, 52183866: 52183866
7 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs397514487 GRCh38 Chromosome 3, 52149850: 52149850
8 BRCA2 NM_000059.3(BRCA2): c.9152delC (p.Pro3051Hisfs) deletion Pathogenic rs587779349 GRCh37 Chromosome 13, 32954178: 32954178
9 BRCA2 NM_000059.3(BRCA2): c.9152delC (p.Pro3051Hisfs) deletion Pathogenic rs587779349 GRCh38 Chromosome 13, 32380041: 32380041
10 XRCC4 NM_003401.4(XRCC4): c.127T> C (p.Trp43Arg) single nucleotide variant Pathogenic rs587779351 GRCh38 Chromosome 5, 83105046: 83105046
11 XRCC4 NM_003401.4(XRCC4): c.127T> C (p.Trp43Arg) single nucleotide variant Pathogenic rs587779351 GRCh37 Chromosome 5, 82400865: 82400865
12 CRIPT NM_014171.5(CRIPT): c.133_134insGG (p.Ala45Glyfs) insertion Pathogenic rs587779356 GRCh37 Chromosome 2, 46846816: 46846817
13 CRIPT NM_014171.5(CRIPT): c.133_134insGG (p.Ala45Glyfs) insertion Pathogenic rs587779356 GRCh38 Chromosome 2, 46619677: 46619678
14 CRIPT NM_014171.5(CRIPT): c.141delT (p.Phe47Leufs) deletion Pathogenic rs587779348 GRCh37 Chromosome 2, 46850906: 46850906
15 CRIPT NM_014171.5(CRIPT): c.141delT (p.Phe47Leufs) deletion Pathogenic rs587779348 GRCh38 Chromosome 2, 46623767: 46623767
16 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic rs587777614 GRCh37 Chromosome 10, 70176460: 70176460
17 DNA2 NM_001080449.2(DNA2): c.3114+6delC deletion Pathogenic rs587777614 GRCh38 Chromosome 10, 68416703: 68416703
18 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh37 Chromosome 17, 61996130: 61996130
19 GH1 NM_000515.4(GH1): c.7A> G (p.Thr3Ala) single nucleotide variant Benign rs2001345 GRCh38 Chromosome 17, 63918770: 63918770
20 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh38 Chromosome 17, 63918780: 63918780
21 GH1 NM_000515.4(GH1): c.-4T> G single nucleotide variant Benign/Likely benign rs6173 GRCh37 Chromosome 17, 61996140: 61996140

Expression for Isolated Growth Hormone Deficiency, Type Ia

Search GEO for disease gene expression data for Isolated Growth Hormone Deficiency, Type Ia.

Pathways for Isolated Growth Hormone Deficiency, Type Ia

GO Terms for Isolated Growth Hormone Deficiency, Type Ia

Cellular components related to Isolated Growth Hormone Deficiency, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.77 BRCA2 CNTLN PCNT POC1A RTTN
2 nuclear chromosome, telomeric region GO:0000784 9.61 BRCA2 DNA2 ORC4
3 centriole GO:0005814 9.46 CNTLN PCNT POC1A RTTN
4 endosome lumen GO:0031904 9.4 CSH1 GH1
5 nucleoplasm GO:0005654 9.4 BRCA2 CDC6 CDT1 CNTLN DNA2 LARP7
6 nuclear origin of replication recognition complex GO:0005664 9.32 ORC4 ORC6
7 origin recognition complex GO:0000808 9.26 ORC4 ORC6
8 tRNA methyltransferase complex GO:0043527 8.96 METTL1 WDR4
9 nucleus GO:0005634 10.27 BRCA2 CDC6 CDT1 CRIPT DNA2 LARP7

Biological processes related to Isolated Growth Hormone Deficiency, Type Ia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 tRNA methylation GO:0030488 9.57 METTL1 WDR4
2 positive regulation of DNA replication GO:0045740 9.56 CDT1 DNA2
3 positive regulation of JAK-STAT cascade GO:0046427 9.55 CSH1 GH1
4 tRNA modification GO:0006400 9.54 METTL1 WDR4
5 DNA replication initiation GO:0006270 9.54 CDC6 ORC4 ORC6
6 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.52 CDC6 CDT1
7 response to X-ray GO:0010165 9.51 BRCA2 XRCC4
8 animal organ development GO:0048513 9.49 CSH1 GH1
9 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.48 CSH1 GH1
10 centriole-centriole cohesion GO:0010457 9.46 CNTLN RTTN
11 G1/S transition of mitotic cell cycle GO:0000082 9.46 CDC6 CDT1 ORC4 ORC6
12 growth hormone receptor signaling pathway GO:0060396 9.43 CSH1 GH1
13 positive regulation of growth GO:0045927 9.4 CSH1 GH1
14 DNA replication GO:0006260 9.35 CDC6 CDT1 DNA2 ORC4 ORC6
15 RNA (guanine-N7)-methylation GO:0036265 9.32 METTL1 WDR4
16 tRNA (guanine-N7)-methylation GO:0106004 9.26 METTL1 WDR4
17 DNA replication checkpoint GO:0000076 8.8 CDC6 CDT1 DNA2

Molecular functions related to Isolated Growth Hormone Deficiency, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth hormone receptor binding GO:0005131 9.16 CSH1 GH1
2 tRNA (guanine-N7-)-methyltransferase activity GO:0008176 8.96 METTL1 WDR4
3 DNA replication origin binding GO:0003688 8.8 CDC6 ORC4 ORC6
4 protein binding GO:0005515 10.16 BRCA2 CDC6 CDT1 CRIPT CSH1 DNA2

Sources for Isolated Growth Hormone Deficiency, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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