CPHD1
MCID: PTT045
MIFTS: 37

Pituitary Hormone Deficiency, Combined, 1 (CPHD1)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 1

MalaCards integrated aliases for Pituitary Hormone Deficiency, Combined, 1:

Name: Pituitary Hormone Deficiency, Combined, 1 57 72 29 13 6 70
Cphd1 57 20 72
Hormone Deficiency, Pituitary, Combined, Type 1 39
Pituitary Hormone Deficiency, Combined 1 20

Characteristics:

OMIM®:

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


HPO:

31
pituitary hormone deficiency, combined, 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Pituitary Hormone Deficiency, Combined, 1

OMIM® : 57 Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; 139250) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; 176760), and thyroid-stimulating hormone (TSH; see 188540), while the production of adrenocorticotrophic hormone (ACTH; see 176830), luteinizing hormone (LH; 152780), and follicle-stimulating hormone (FSH; 136530) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). (613038) (Updated 05-Apr-2021)

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 1, also known as cphd1, is related to adamantinous craniopharyngioma and isolated growth hormone deficiency, type ii. An important gene associated with Pituitary Hormone Deficiency, Combined, 1 is POU1F1 (POU Class 1 Homeobox 1). Affiliated tissues include pituitary, thyroid and eye, and related phenotypes are intellectual disability and frontal bossing

UniProtKB/Swiss-Prot : 72 Pituitary hormone deficiency, combined, 1: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature.

Related Diseases for Pituitary Hormone Deficiency, Combined, 1

Graphical network of the top 20 diseases related to Pituitary Hormone Deficiency, Combined, 1:



Diseases related to Pituitary Hormone Deficiency, Combined, 1

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 1

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 1:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 frontal bossing 31 HP:0002007
3 hypothyroidism 31 HP:0000821
4 macroglossia 31 HP:0000158
5 depressed nasal bridge 31 HP:0005280
6 short nose 31 HP:0003196
7 anteverted nares 31 HP:0000463
8 short stature 31 HP:0004322
9 prominent forehead 31 HP:0011220
10 jaundice 31 HP:0000952
11 deeply set eye 31 HP:0000490
12 malar flattening 31 HP:0000272
13 midface retrusion 31 HP:0011800
14 delayed cranial suture closure 31 HP:0000270
15 severe postnatal growth retardation 31 HP:0008850
16 prolonged neonatal jaundice 31 HP:0006579
17 generalized hypotonia 31 HP:0001290
18 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypothyroidism

Head And Neck Head:
prominent forehead

Head And Neck Eyes:
deep-set eyes

Growth Height:
short stature (if untreated)

Growth Other:
severe growth retardation in infancy

Skeletal Skull:
open sutures (untreated hypothyroidism)
open fontanelles (untreated hypothyroidism)

Neurologic Central Nervous System:
hypoplasia of anterior or entire pituitary gland (frequent)
mental retardation (untreated hypothyroidism)

Head And Neck Nose:
depressed nasal bridge
short nose with anteverted nostrils

Head And Neck Face:
midface hypoplasia

Skin Nails Hair Skin:
jaundice, neonatal
myxedema (untreated hypothyroidism)

Laboratory Abnormalities:
low or absent growth hormone (gh)
low or absent thyroid-stimulating hormone (tsh)
low or absent prolactin (pl)

Head And Neck Mouth:
macroglossia (untreated hypothyroidism)

Muscle Soft Tissue:
hypotonia (untreated hypothyroidism)

Clinical features from OMIM®:

613038 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 1

Search Clinical Trials , NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 1

Genetic Tests for Pituitary Hormone Deficiency, Combined, 1

Genetic tests related to Pituitary Hormone Deficiency, Combined, 1:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined, 1 29 POU1F1

Anatomical Context for Pituitary Hormone Deficiency, Combined, 1

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 1:

40
Pituitary, Thyroid, Eye

Publications for Pituitary Hormone Deficiency, Combined, 1

Articles related to Pituitary Hormone Deficiency, Combined, 1:

(show all 28)
# Title Authors PMID Year
1
Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency. 57 6
16968807 2006
2
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. 6 57
15928241 2005
3
A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect. 57 6
12629113 2003
4
Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene. 57 6
11297581 2001
5
Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates. 57 6
11222742 2001
6
Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. 57 6
9626142 1998
7
Pituitary dwarfism in the R271W Pit-1 gene mutation. 6 57
9392392 1997
8
A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. 6 57
8768831 1996
9
A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. 6 57
7670563 1995
10
Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype. 6 57
7833912 1994
11
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. 57 6
1472057 1992
12
A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. 57 6
1509262 1992
13
Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. 6 57
1509263 1992
14
Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. 57 6
1302000 1992
15
Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency. 57 6
2634610 1989
16
Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies. 6 57
1271194 1976
17
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? 57
16060904 2005
18
A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies. 6
11924936 2002
19
Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia. 57
10946868 2000
20
Description of a Brazilian patient bearing the R271W Pit-1 gene mutation. 6
9588494 1998
21
Mutations in PROP1 cause familial combined pituitary hormone deficiency. 57
9462743 1998
22
The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency. 57
7593413 1995
23
A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene. 6
7721104 1995
24
Anterior pituitary development: short tales from dwarf mice. 57
1505020 1992
25
The natural history of familial hypopituitarism. 57
2998186 1985
26
General Tom Thumb and other midgets. 57
6046325 1967
27
[Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type I caused by POU1F1 gene variation]. 61
31315769 2019
28
Genetic analysis of nitric oxide and endothelin in end-stage renal disease. 61
11071967 2000

Variations for Pituitary Hormone Deficiency, Combined, 1

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 1:

6 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POU1F1 NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter) SNV Pathogenic 13602 rs104893754 GRCh37: 3:87311311-87311311
GRCh38: 3:87262161-87262161
2 POU1F1 NM_000306.4(POU1F1):c.665+1G>T SNV Pathogenic 126542 rs515726221 GRCh37: 3:87310422-87310422
GRCh38: 3:87261272-87261272
3 HESX1 NM_003865.3(HESX1):c.240del (p.Glu81fs) Deletion Pathogenic 492848 rs777833871 GRCh37: 3:57232898-57232898
GRCh38: 3:57198870-57198870
4 POU1F1 NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg) SNV Pathogenic 13616 rs104893766 GRCh37: 3:87311288-87311288
GRCh38: 3:87262138-87262138
5 POU1F1 NM_000306.4(POU1F1):c.775dup (p.Arg259fs) Duplication Pathogenic 13615 rs587776799 GRCh37: 3:87309144-87309145
GRCh38: 3:87259994-87259995
6 POU1F1 NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys) SNV Pathogenic 13613 rs104893764 GRCh37: 3:87309232-87309232
GRCh38: 3:87260082-87260082
7 POU1F1 NM_000306.4(POU1F1):c.433A>T (p.Lys145Ter) SNV Pathogenic 13612 rs104893763 GRCh37: 3:87313444-87313444
GRCh38: 3:87264294-87264294
8 POU1F1 NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg) SNV Pathogenic 13611 rs104893758 GRCh37: 3:87311248-87311248
GRCh38: 3:87262098-87262098
9 POU1F1 NM_000306.4(POU1F1):c.747del (p.Glu250fs) Deletion Pathogenic 13610 rs587776798 GRCh37: 3:87309173-87309173
GRCh38: 3:87260023-87260023
10 POU1F1 NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser) SNV Pathogenic 13609 rs104893762 GRCh37: 3:87309205-87309205
GRCh38: 3:87260055-87260055
11 POU1F1 NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys) SNV Pathogenic 13608 rs104893761 GRCh37: 3:87313473-87313473
GRCh38: 3:87264323-87264323
12 POU1F1 NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter) SNV Pathogenic 13607 rs104893760 GRCh37: 3:87309172-87309172
GRCh38: 3:87260022-87260022
13 POU1F1 NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln) SNV Pathogenic 13606 rs104893759 GRCh37: 3:87313449-87313449
GRCh38: 3:87264299-87264299
14 POU1F1 NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu) SNV Pathogenic 13605 rs104893757 GRCh37: 3:87325542-87325542
GRCh38: 3:87276392-87276392
15 POU1F1 NM_000306.4(POU1F1):c.472G>C (p.Ala158Pro) SNV Pathogenic 13604 rs104893756 GRCh37: 3:87311353-87311353
GRCh38: 3:87262203-87262203
16 POU1F1 NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) SNV Pathogenic 13603 rs104893755 GRCh37: 3:87309109-87309109
GRCh38: 3:87259959-87259959
17 POU1F1 NM_000306.4(POU1F1):c.142+1G>T SNV Pathogenic 1032983 GRCh37: 3:87325470-87325470
GRCh38: 3:87276320-87276320
18 HESX1 NM_003865.3(HESX1):c.308T>A (p.Leu103Ter) SNV Pathogenic 492849 rs777223697 GRCh37: 3:57232830-57232830
GRCh38: 3:57198802-57198802
19 HESX1 NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) SNV Pathogenic 492850 rs754137696 GRCh37: 3:57232825-57232825
GRCh38: 3:57198797-57198797
20 POU1F1 NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) SNV Pathogenic 13614 rs104893765 GRCh37: 3:87311310-87311310
GRCh38: 3:87262160-87262160
21 POU1F1 NM_000306.4(POU1F1):c.212C>T (p.Ala71Val) SNV Likely pathogenic 998046 GRCh37: 3:87322499-87322499
GRCh38: 3:87273349-87273349
22 POU1F1 NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter) SNV Likely pathogenic 998004 GRCh37: 3:87310439-87310439
GRCh38: 3:87261289-87261289
23 POU1F1 NC_000003.12:g.87310484C>T SNV Likely pathogenic 161432 rs606231411 GRCh37: 3:87359634-87359634
GRCh38: 3:87310484-87310484
24 POU1F1 NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) Deletion Likely pathogenic 254175 rs772390221 GRCh37: 3:87310446-87310450
GRCh38: 3:87261296-87261300
25 POU1F1 NM_000306.4(POU1F1):c.215-3C>G SNV Likely pathogenic 254176 rs754584667 GRCh37: 3:87313665-87313665
GRCh38: 3:87264515-87264515
26 POU1F1 NM_000306.4(POU1F1):c.*141A>T SNV Uncertain significance 346832 rs552876873 GRCh37: 3:87308903-87308903
GRCh38: 3:87259753-87259753
27 POU1F1 NM_000306.4(POU1F1):c.604+9T>C SNV Uncertain significance 346841 rs374875206 GRCh37: 3:87311212-87311212
GRCh38: 3:87262062-87262062
28 POU1F1 NM_000306.4(POU1F1):c.-48T>C SNV Uncertain significance 346847 rs771498395 GRCh37: 3:87325660-87325660
GRCh38: 3:87276510-87276510
29 POU1F1 NM_000306.4(POU1F1):c.-105T>C SNV Uncertain significance 346848 rs886058915 GRCh37: 3:87325717-87325717
GRCh38: 3:87276567-87276567
30 POU1F1 NM_000306.4(POU1F1):c.90T>A (p.Ser30Arg) SNV Uncertain significance 346846 rs543096490 GRCh37: 3:87325523-87325523
GRCh38: 3:87276373-87276373
31 LHX3 NM_178138.6(LHX3):c.281A>T (p.Gln94Leu) SNV Uncertain significance 492770 rs758634719 GRCh37: 9:139091697-139091697
GRCh38: 9:136199851-136199851
32 LHX4 NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr) SNV Uncertain significance 492768 rs1553282666 GRCh37: 1:180235637-180235637
GRCh38: 1:180266502-180266502
33 HESX1 NM_003865.3(HESX1):c.200G>A (p.Ser67Asn) SNV Uncertain significance 492847 rs141863326 GRCh37: 3:57232938-57232938
GRCh38: 3:57198910-57198910
34 LHX4-AS1 , LHX4 , ACBD6 NM_033343.4(LHX4):c.740A>T (p.Glu247Val) SNV Uncertain significance 492769 rs766381404 GRCh37: 1:180241103-180241103
GRCh38: 1:180271968-180271968
35 POU1F1 NM_000306.4(POU1F1):c.27T>C (p.Ala9=) SNV Uncertain significance 902196 GRCh37: 3:87325586-87325586
GRCh38: 3:87276436-87276436
36 POU1F1 NM_000306.4(POU1F1):c.252C>T (p.His84=) SNV Uncertain significance 597988 rs4988460 GRCh37: 3:87313625-87313625
GRCh38: 3:87264475-87264475
37 HESX1 NM_003865.3(HESX1):c.385G>A (p.Val129Ile) SNV Uncertain significance 267733 rs143057250 GRCh37: 3:57232493-57232493
GRCh38: 3:57198465-57198465
38 POU1F1 NM_000306.4(POU1F1):c.143-64T>G SNV Uncertain significance 424407 rs1064796954 GRCh37: 3:87322632-87322632
GRCh38: 3:87273482-87273482
39 POU1F1 NM_000306.4(POU1F1):c.667A>G (p.Ile223Val) SNV Uncertain significance 346838 rs770960302 GRCh37: 3:87309253-87309253
GRCh38: 3:87260103-87260103
40 POU1F1 NM_000306.4(POU1F1):c.370A>G (p.Met124Val) SNV Uncertain significance 346844 rs143373007 GRCh37: 3:87313507-87313507
GRCh38: 3:87264357-87264357
41 POU1F1 NM_000306.4(POU1F1):c.439+4T>C SNV Uncertain significance 513086 rs199746697 GRCh37: 3:87313434-87313434
GRCh38: 3:87264284-87264284
42 POU1F1 NM_000306.4(POU1F1):c.*245A>G SNV Uncertain significance 346828 rs771316195 GRCh37: 3:87308799-87308799
GRCh38: 3:87259649-87259649
43 POU1F1 NM_000306.4(POU1F1):c.439+12T>C SNV Uncertain significance 900534 GRCh37: 3:87313426-87313426
GRCh38: 3:87264276-87264276
44 POU1F1 NM_000306.4(POU1F1):c.456T>C (p.Asn152=) SNV Uncertain significance 346842 rs886058914 GRCh37: 3:87311369-87311369
GRCh38: 3:87262219-87262219
45 POU1F1 NM_000306.4(POU1F1):c.486C>T (p.Gly162=) SNV Uncertain significance 900533 GRCh37: 3:87311339-87311339
GRCh38: 3:87262189-87262189
46 POU1F1 NM_000306.4(POU1F1):c.427C>A (p.Arg143=) SNV Uncertain significance 346843 rs142046308 GRCh37: 3:87313450-87313450
GRCh38: 3:87264300-87264300
47 LHX3 NM_178138.6(LHX3):c.309G>T (p.Val103=) SNV Likely benign 492771 rs766945737 GRCh37: 9:139091669-139091669
GRCh38: 9:136199823-136199823
48 CHMP2B , POU1F1 NM_000306.4(POU1F1):c.*139T>A SNV Benign 346836 rs4988463 GRCh37: 3:87308905-87308905
GRCh38: 3:87259755-87259755
49 CHMP2B , POU1F1 NM_000306.4(POU1F1):c.*138T>A SNV Benign 346837 rs190287993 GRCh37: 3:87308906-87308906
GRCh38: 3:87259756-87259756
50 CHMP2B , POU1F1 NM_000306.4(POU1F1):c.*213= SNV Benign 346829 rs6792500 GRCh37: 3:87308831-87308831
GRCh38: 3:87259681-87259681

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 1:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 POU1F1 p.Pro24Leu VAR_003777 rs104893757
2 POU1F1 p.Arg143Gln VAR_003778 rs104893759
3 POU1F1 p.Ala158Pro VAR_003779 rs104893756
4 POU1F1 p.Arg271Trp VAR_003781 rs104893755
5 POU1F1 p.Phe135Cys VAR_010574 rs104893761
6 POU1F1 p.Glu174Gly VAR_010575 rs120717916
7 POU1F1 p.Pro239Ser VAR_010576 rs104893762
8 POU1F1 p.Trp193Arg VAR_015260 rs104893758
9 POU1F1 p.Arg172Gln VAR_063425 rs104893765
10 POU1F1 p.Ser179Arg VAR_063426 rs104893766
11 POU1F1 p.Glu230Lys VAR_063427 rs104893764
12 POU1F1 p.Pro76Leu VAR_075530
13 POU1F1 p.Arg265Trp VAR_075531 rs780359925

Expression for Pituitary Hormone Deficiency, Combined, 1

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 1.

Pathways for Pituitary Hormone Deficiency, Combined, 1

GO Terms for Pituitary Hormone Deficiency, Combined, 1

Cellular components related to Pituitary Hormone Deficiency, Combined, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.92 POU1F1 LHX4 LHX3 HESX1

Biological processes related to Pituitary Hormone Deficiency, Combined, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.71 POU1F1 LHX4 LHX3 HESX1
2 regulation of transcription, DNA-templated GO:0006355 9.67 POU1F1 LHX4 LHX3 HESX1
3 placenta development GO:0001890 9.32 LHX4 LHX3
4 acyl-CoA metabolic process GO:0006637 9.26 LHX4-AS1 ACBD6
5 pituitary gland development GO:0021983 9.16 LHX3 HESX1
6 motor neuron axon guidance GO:0008045 8.96 LHX4 LHX3
7 medial motor column neuron differentiation GO:0021526 8.62 LHX4 LHX3

Molecular functions related to Pituitary Hormone Deficiency, Combined, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 POU1F1 LHX4 LHX3 HESX1
2 sequence-specific double-stranded DNA binding GO:1990837 9.54 POU1F1 LHX4 HESX1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 POU1F1 LHX4 LHX3
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.33 LHX4 LHX3 HESX1
5 RNA polymerase II transcription factor binding GO:0001085 8.96 POU1F1 LHX3
6 fatty-acyl-CoA binding GO:0000062 8.62 LHX4-AS1 ACBD6

Sources for Pituitary Hormone Deficiency, Combined, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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