MCID: SPS095
MIFTS: 36

Spastic Paraplegia 47, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 47, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 47, Autosomal Recessive:

Name: Spastic Paraplegia 47, Autosomal Recessive 57 75 29 13 6 73
Spg47 57 12 75
Hereditary Spastic Paraplegia 47 12 15
Cpsq5 12 75
Cerebral Palsy, Spastic Quadriplegic, 5, Formerly; Cpsq5, Formerly 57
Cerebral Palsy, Spastic Quadriplegic, 5, Formerly 57
Palsy, Cerebral, Spastic Quadriplegic, Type 5 40
Autosomal Recessive Spastic Paraplegia 47 12
Cerebral Palsy, Spastic Quadriplegic 5 75
Spastic Quadriplegic Cerebral Palsy 5 12
Cpsq5, Formerly 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset at birth


HPO:

32
spastic paraplegia 47, autosomal recessive:
Onset and clinical course congenital onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 47, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 47, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development.

MalaCards based summary : Spastic Paraplegia 47, Autosomal Recessive, also known as spg47, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including muscle spasticity, seizures and waddling gait. An important gene associated with Spastic Paraplegia 47, Autosomal Recessive is AP4B1 (Adaptor Related Protein Complex 4 Subunit Beta 1). Related phenotypes are high palate and seizures

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AP4B1 gene on chromosome 1p13.

OMIM : 57 Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). (614066)

Related Diseases for Spastic Paraplegia 47, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 47, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 paraplegia 27.6 AP5Z1 ERLIN2 REEP1 WASHC5
2 hereditary spastic paraplegia 26.9 AP4B1 AP5Z1 ERLIN2 REEP1 WASHC5
3 hereditary spastic paraplegia 51 10.2 AP4B1 AP5Z1
4 spastic paraplegia 52, autosomal recessive 10.1 AP4B1 AP5Z1
5 spastic paraplegia 50, autosomal recessive 10.1 AP4B1 AP5Z1
6 spasticity 10.1
7 spastic paraplegia 28, autosomal recessive 10.0 AP4B1 AP5Z1
8 spastic paraplegia 33, autosomal dominant 10.0 AP5Z1 REEP1
9 spastic paraplegia 44, autosomal recessive 9.9 AP5Z1 ERLIN2
10 spastic paraplegia 31, autosomal dominant 9.8 AP5Z1 REEP1
11 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2
12 spastic paraplegia 10, autosomal dominant 9.7 AP5Z1 REEP1
13 spastic paraplegia 35, autosomal recessive 9.7 AP5Z1 ERLIN2
14 masa syndrome 9.6 AP5Z1 REEP1
15 spastic paraplegia 2, x-linked 9.3 AP5Z1 ERLIN2 REEP1
16 spastic paraplegia 6, autosomal dominant 9.3 AP5Z1 ERLIN2 REEP1
17 spastic paraplegia 12, autosomal dominant 9.3 AP5Z1 ERLIN2 REEP1
18 spastic paraplegia 4, autosomal dominant 9.2 ERLIN2 REEP1
19 spastic paraplegia 13, autosomal dominant 9.0 AP5Z1 ERLIN2 WASHC5
20 spastic paraplegia 18, autosomal recessive 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
21 spastic paraplegia 39, autosomal recessive 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
22 spastic paraplegia 30, autosomal recessive 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
23 spastic paraplegia 42, autosomal dominant 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
24 spastic paraplegia 8, autosomal dominant 8.4 AP5Z1 ERLIN2 REEP1 WASHC5

Graphical network of the top 20 diseases related to Spastic Paraplegia 47, Autosomal Recessive:



Diseases related to Spastic Paraplegia 47, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 47, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
dysarthria
hyperreflexia
dystonia
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
wide mouth
high-arched palate
everted upper vermilion

Skeletal:
contractures
joint hyperlaxity (1 family)

Neurologic Behavioral Psychiatric Manifestations:
stereotypic laughter
shy character (1 family)

Skeletal Limbs:
genu recurvatum (1 family)

Head And Neck Nose:
wide nasal bridge
bulbous nose

Growth Height:
short stature

Head And Neck Face:
short philtrum
coarse face
bitemporal narrowing
hypotonia face

Muscle Soft Tissue:
hypotonia, neonatal
hypertonia later

Skeletal Pelvis:
valgosity of the hips (1 family)
acetabular dysplasia (1 family)

Skeletal Feet:
pes planus (1 family)
club feet (1 family)


Clinical features from OMIM:

614066

Human phenotypes related to Spastic Paraplegia 47, Autosomal Recessive:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 dysarthria 32 HP:0001260
5 hyperreflexia 32 HP:0001347
6 coarse facial features 32 HP:0000280
7 global developmental delay 32 HP:0001263
8 wide nasal bridge 32 occasional (7.5%) HP:0000431
9 delayed speech and language development 32 HP:0000750
10 pes planus 32 occasional (7.5%) HP:0001763
11 microcephaly 32 HP:0000252
12 neonatal hypotonia 32 HP:0001319
13 short stature 32 occasional (7.5%) HP:0004322
14 flexion contracture 32 HP:0001371
15 intellectual disability, severe 32 HP:0010864
16 genu recurvatum 32 occasional (7.5%) HP:0002816
17 babinski sign 32 HP:0003487
18 dystonia 32 HP:0001332
19 ventriculomegaly 32 HP:0002119
20 wide mouth 32 HP:0000154
21 short philtrum 32 HP:0000322
22 bulbous nose 32 HP:0000414
23 talipes equinovarus 32 occasional (7.5%) HP:0001762
24 spastic paraplegia 32 HP:0001258
25 hypoplasia of the corpus callosum 32 HP:0002079
26 abnormality of the periventricular white matter 32 HP:0002518
27 waddling gait 32 HP:0002515
28 narrow forehead 32 HP:0000341
29 acetabular dysplasia 32 HP:0008807

UMLS symptoms related to Spastic Paraplegia 47, Autosomal Recessive:


muscle spasticity, seizures, waddling gait

Drugs & Therapeutics for Spastic Paraplegia 47, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 47, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 47, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 47, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 47, Autosomal Recessive 29 AP4B1

Anatomical Context for Spastic Paraplegia 47, Autosomal Recessive

Publications for Spastic Paraplegia 47, Autosomal Recessive

Variations for Spastic Paraplegia 47, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 47, Autosomal Recessive:

6
(show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 AP4B1 AP4B1, 3-BP INS, 487TAT insertion Pathogenic
2 AP4B1 AP4B1, 1-BP DEL, 664C deletion Pathogenic
3 AP4B1 NM_006594.4(AP4B1): c.1160_1161delCA (p.Thr387Argfs) deletion Pathogenic rs587779388 GRCh37 Chromosome 1, 114441377: 114441378
4 AP4B1 NM_006594.4(AP4B1): c.1160_1161delCA (p.Thr387Argfs) deletion Pathogenic rs587779388 GRCh38 Chromosome 1, 113898755: 113898756
5 AP4B1 NM_006594.4(AP4B1): c.1365T> C (p.Tyr455=) single nucleotide variant Benign/Likely benign rs114201291 GRCh37 Chromosome 1, 114439025: 114439025
6 AP4B1 NM_006594.4(AP4B1): c.1365T> C (p.Tyr455=) single nucleotide variant Benign/Likely benign rs114201291 GRCh38 Chromosome 1, 113896403: 113896403
7 AP4B1 NM_006594.4(AP4B1): c.1793-9C> G single nucleotide variant Benign rs17031980 GRCh37 Chromosome 1, 114438123: 114438123
8 AP4B1 NM_006594.4(AP4B1): c.1793-9C> G single nucleotide variant Benign rs17031980 GRCh38 Chromosome 1, 113895501: 113895501
9 AP4B1 NM_006594.4(AP4B1): c.240A> G (p.Pro80=) single nucleotide variant Benign/Likely benign rs34249695 GRCh37 Chromosome 1, 114445358: 114445358
10 AP4B1 NM_006594.4(AP4B1): c.240A> G (p.Pro80=) single nucleotide variant Benign/Likely benign rs34249695 GRCh38 Chromosome 1, 113902736: 113902736
11 AP4B1 NM_006594.4(AP4B1): c.313delG (p.Ala105Argfs) deletion Pathogenic rs587783179 GRCh37 Chromosome 1, 114445285: 114445285
12 AP4B1 NM_006594.4(AP4B1): c.313delG (p.Ala105Argfs) deletion Pathogenic rs587783179 GRCh38 Chromosome 1, 113902663: 113902663
13 AP4B1 NM_006594.4(AP4B1): c.402A> C (p.Ser134=) single nucleotide variant Benign rs34751342 GRCh37 Chromosome 1, 114444444: 114444444
14 AP4B1 NM_006594.4(AP4B1): c.402A> C (p.Ser134=) single nucleotide variant Benign rs34751342 GRCh38 Chromosome 1, 113901822: 113901822
15 AP4B1 NM_006594.4(AP4B1): c.577G> A (p.Val193Ile) single nucleotide variant Uncertain significance rs376478015 GRCh37 Chromosome 1, 114443898: 114443898
16 AP4B1 NM_006594.4(AP4B1): c.577G> A (p.Val193Ile) single nucleotide variant Uncertain significance rs376478015 GRCh38 Chromosome 1, 113901276: 113901276
17 AP4B1 NM_006594.4(AP4B1): c.69A> G (p.Gln23=) single nucleotide variant Benign rs117872964 GRCh37 Chromosome 1, 114447271: 114447271
18 AP4B1 NM_006594.4(AP4B1): c.69A> G (p.Gln23=) single nucleotide variant Benign rs117872964 GRCh38 Chromosome 1, 113904649: 113904649
19 AP4B1 NM_006594.4(AP4B1): c.803A> G (p.His268Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201047107 GRCh37 Chromosome 1, 114442837: 114442837
20 AP4B1 NM_006594.4(AP4B1): c.803A> G (p.His268Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201047107 GRCh38 Chromosome 1, 113900215: 113900215
21 AP4B1 AP4B1, 1-BP DEL, 869C deletion Pathogenic
22 AP4B1 NM_006594.4(AP4B1): c.311_312delTGinsC (p.Leu104Profs) indel Pathogenic rs797045244 GRCh37 Chromosome 1, 114445286: 114445287
23 AP4B1 NM_006594.4(AP4B1): c.311_312delTGinsC (p.Leu104Profs) indel Pathogenic rs797045244 GRCh38 Chromosome 1, 113902664: 113902665
24 AP4B1 NM_006594.4(AP4B1): c.767C> T (p.Thr256Ile) single nucleotide variant Likely benign rs143286419 GRCh37 Chromosome 1, 114442873: 114442873
25 AP4B1 NM_006594.4(AP4B1): c.767C> T (p.Thr256Ile) single nucleotide variant Likely benign rs143286419 GRCh38 Chromosome 1, 113900251: 113900251
26 AP4B1 NM_006594.4(AP4B1): c.1723A> G (p.Ile575Val) single nucleotide variant Benign/Likely benign rs114734921 GRCh38 Chromosome 1, 113895826: 113895826
27 AP4B1 NM_006594.4(AP4B1): c.1723A> G (p.Ile575Val) single nucleotide variant Benign/Likely benign rs114734921 GRCh37 Chromosome 1, 114438448: 114438448
28 AP4B1 NM_006594.4(AP4B1): c.891T> C (p.Leu297=) single nucleotide variant Likely benign rs377589103 GRCh38 Chromosome 1, 113900127: 113900127
29 AP4B1 NM_006594.4(AP4B1): c.1744G> A (p.Glu582Lys) single nucleotide variant Uncertain significance rs779319072 GRCh37 Chromosome 1, 114438427: 114438427
30 AP4B1 NM_006594.4(AP4B1): c.1744G> A (p.Glu582Lys) single nucleotide variant Uncertain significance rs779319072 GRCh38 Chromosome 1, 113895805: 113895805
31 AP4B1 NM_006594.4(AP4B1): c.891T> C (p.Leu297=) single nucleotide variant Likely benign rs377589103 GRCh37 Chromosome 1, 114442749: 114442749
32 AP4B1 NM_006594.4(AP4B1): c.217T> A (p.Cys73Ser) single nucleotide variant Uncertain significance rs552888524 GRCh37 Chromosome 1, 114445381: 114445381
33 AP4B1 NM_006594.4(AP4B1): c.217T> A (p.Cys73Ser) single nucleotide variant Uncertain significance rs552888524 GRCh38 Chromosome 1, 113902759: 113902759
34 AP4B1 NM_006594.4(AP4B1): c.755T> C (p.Val252Ala) single nucleotide variant Uncertain significance rs141417436 GRCh37 Chromosome 1, 114442885: 114442885
35 AP4B1 NM_006594.4(AP4B1): c.755T> C (p.Val252Ala) single nucleotide variant Uncertain significance rs141417436 GRCh38 Chromosome 1, 113900263: 113900263
36 AP4B1 NM_006594.4(AP4B1): c.787G> A (p.Ala263Thr) single nucleotide variant Uncertain significance rs760880631 GRCh38 Chromosome 1, 113900231: 113900231
37 AP4B1 NM_006594.4(AP4B1): c.787G> A (p.Ala263Thr) single nucleotide variant Uncertain significance rs760880631 GRCh37 Chromosome 1, 114442853: 114442853
38 AP4B1 NM_006594.4(AP4B1): c.1643C> T (p.Pro548Leu) single nucleotide variant Uncertain significance rs149723440 GRCh38 Chromosome 1, 113895906: 113895906
39 AP4B1 NM_006594.4(AP4B1): c.1643C> T (p.Pro548Leu) single nucleotide variant Uncertain significance rs149723440 GRCh37 Chromosome 1, 114438528: 114438528
40 AP4B1 NM_006594.4(AP4B1): c.1216C> T (p.Arg406Ter) single nucleotide variant Likely pathogenic rs776976178 GRCh38 Chromosome 1, 113897926: 113897926
41 AP4B1 NM_006594.4(AP4B1): c.1216C> T (p.Arg406Ter) single nucleotide variant Likely pathogenic rs776976178 GRCh37 Chromosome 1, 114440548: 114440548
42 AP4B1 NM_006594.4(AP4B1): c.1490_1503delGTTTGTTGTATTAC (p.Arg497Leufs) deletion Pathogenic GRCh38 Chromosome 1, 113896265: 113896278
43 AP4B1 NM_006594.4(AP4B1): c.1490_1503delGTTTGTTGTATTAC (p.Arg497Leufs) deletion Pathogenic GRCh37 Chromosome 1, 114438887: 114438900
44 AP4B1 NM_006594.4(AP4B1): c.338+5G> A single nucleotide variant Likely pathogenic rs1019204290 GRCh38 Chromosome 1, 113902633: 113902633
45 AP4B1 NM_006594.4(AP4B1): c.338+5G> A single nucleotide variant Likely pathogenic rs1019204290 GRCh37 Chromosome 1, 114445255: 114445255
46 AP4B1 NM_006594.4(AP4B1): c.112A> G (p.Arg38Gly) single nucleotide variant Uncertain significance rs773391519 GRCh37 Chromosome 1, 114447228: 114447228
47 AP4B1 NM_006594.4(AP4B1): c.112A> G (p.Arg38Gly) single nucleotide variant Uncertain significance rs773391519 GRCh38 Chromosome 1, 113904606: 113904606
48 AP4B1 NM_006594.4(AP4B1): c.2200A> G (p.Ile734Val) single nucleotide variant Likely benign rs79050956 GRCh37 Chromosome 1, 114437707: 114437707
49 AP4B1 NM_006594.4(AP4B1): c.2200A> G (p.Ile734Val) single nucleotide variant Likely benign rs79050956 GRCh38 Chromosome 1, 113895085: 113895085
50 AP4B1 NM_006594.4(AP4B1): c.2082A> T (p.Leu694Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 114437825: 114437825

Expression for Spastic Paraplegia 47, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 47, Autosomal Recessive.

Pathways for Spastic Paraplegia 47, Autosomal Recessive

GO Terms for Spastic Paraplegia 47, Autosomal Recessive

Biological processes related to Spastic Paraplegia 47, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.13 AP4B1 AP5Z1 WASHC5
2 endosomal transport GO:0016197 8.62 AP5Z1 WASHC5

Sources for Spastic Paraplegia 47, Autosomal Recessive

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