SOFT
MCID: SHR059
MIFTS: 47

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (SOFT)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

MalaCards integrated aliases for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

Name: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 57 73
Soft Syndrome 57 58 73 75
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome 58 28 5
Soft 57 73
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome 71
Stature, Short, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 38

Characteristics:


Inheritance:

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis: Autosomal recessive 57
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome: Autosomal recessive 58

Prevelance:

Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
waddling gait


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

OMIM®: 57 SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). (614813) (Updated 08-Dec-2022)

MalaCards based summary: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis, also known as soft syndrome, is related to soft tissue sarcoma and alveolar soft part sarcoma, and has symptoms including waddling gait An important gene associated with Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis is POC1A (POC1 Centriolar Protein A). Affiliated tissues include bone, skin and breast, and related phenotypes are diabetes mellitus and developmental regression

UniProtKB/Swiss-Prot: 73 A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed.

Orphanet: 58 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

Wikipedia: 75 SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial... more...

Related Diseases for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2823)
# Related Disease Score Top Affiliating Genes
1 soft tissue sarcoma 11.8
2 alveolar soft part sarcoma 11.7
3 sarcoma 11.6
4 cleft soft palate 11.5
5 connective tissue benign neoplasm 11.4
6 clear cell sarcoma 11.4
7 soft tissue chondroma 11.3
8 kaposi sarcoma 11.3
9 necrotizing soft tissue infection 11.3
10 liposarcoma 11.3
11 sarcoma, synovial 11.3
12 soft palate cancer 11.3
13 ewing sarcoma 11.3
14 perineurioma 11.2
15 leiomyosarcoma 11.2
16 cervical alveolar soft part sarcoma 11.2
17 extraneural perineurioma 11.2
18 klippel-trenaunay-weber syndrome 11.2
19 epithelioid sarcoma 11.2
20 dermatofibrosarcoma protuberans 11.2
21 vulvar alveolar soft part sarcoma 11.2
22 mesomelia-synostoses syndrome 11.2
23 malignant fibrous histiocytoma 11.2
24 chancroid 11.2
25 malignant giant cell tumor of soft parts 11.2
26 myxofibrosarcoma 11.1
27 fibrosarcoma 11.1
28 chondrosarcoma, extraskeletal myxoid 11.1
29 cleft palate, isolated 11.1
30 rhabdoid cancer 11.1
31 rhabdomyosarcoma 11.1
32 familial adenomatous polyposis 1 11.1
33 melanoma of soft tissue 11.1
34 li-fraumeni syndrome 11.1
35 myxoid liposarcoma 11.1
36 skin tag 11.1
37 pseudosarcomatous fibromatosis 11.1
38 chordoma 11.1
39 rhabdomyosarcoma 2 11.1
40 gastrointestinal stromal tumor 11.0
41 soft tissue peripheral neuroepithelioma 11.0
42 caffey disease 11.0
43 mediastinal mesenchymal tumor 11.0
44 hemifacial atrophy, progressive 11.0
45 muscle cancer 11.0
46 palatopharyngeal incompetence 11.0
47 chondrosarcoma 11.0
48 malignant peripheral nerve sheath tumor 11.0
49 ehlers-danlos syndrome 11.0
50 rare soft tissue tumor 11.0

Graphical network of the top 20 diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:



Diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Symptoms & Phenotypes for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Human phenotypes related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 30 Occasional (7.5%) HP:0000819
2 developmental regression 30 Occasional (7.5%) HP:0002376
3 abnormality of the dentition 30 Occasional (7.5%) HP:0000164
4 deeply set eye 30 Occasional (7.5%) HP:0000490
5 generalized hypotonia 30 Occasional (7.5%) HP:0001290
6 clitoral hypoplasia 30 Occasional (7.5%) HP:0000060
7 breast hypoplasia 30 Occasional (7.5%) HP:0003187
8 failure to thrive 30 Very rare (1%) HP:0001508
9 osteopenia 30 Very rare (1%) HP:0000938
10 hypotonia 30 Very rare (1%) HP:0001252
11 global developmental delay 30 Very rare (1%) HP:0001263
12 hypertelorism 30 Very rare (1%) HP:0000316
13 low-set ears 30 Very rare (1%) HP:0000369
14 long philtrum 30 Very rare (1%) HP:0000343
15 high forehead 30 Very rare (1%) HP:0000348
16 small hand 30 Very rare (1%) HP:0200055
17 triangular face 30 Very rare (1%) HP:0000325
18 short foot 30 Very rare (1%) HP:0001773
19 posteriorly rotated ears 30 Very rare (1%) HP:0000358
20 rhizomelia 30 Very rare (1%) HP:0008905
21 small for gestational age 30 Very rare (1%) HP:0001518
22 broad nasal tip 30 Very rare (1%) HP:0000455
23 low hanging columella 30 Very rare (1%) HP:0009765
24 macrocephaly 30 HP:0000256
25 mandibular prognathia 30 HP:0000303
26 microtia 30 HP:0008551
27 microcephaly 30 HP:0000252
28 prominent forehead 30 HP:0011220
29 growth delay 30 HP:0001510
30 waddling gait 30 HP:0002515
31 brachydactyly 30 HP:0001156
32 long face 30 HP:0000276
33 pointed chin 30 HP:0000307
34 short distal phalanx of finger 30 HP:0009882
35 high pitched voice 30 HP:0001620
36 short metacarpal 30 HP:0010049
37 nail dysplasia 30 HP:0002164
38 cone-shaped epiphysis 30 HP:0010579
39 sparse hair 30 HP:0008070
40 prominent nose 30 HP:0000448
41 small nail 30 HP:0001792
42 oligospermia 30 HP:0000798
43 short metatarsal 30 HP:0010743
44 hypoplastic pelvis 30 HP:0008839
45 short femoral neck 30 HP:0100864
46 clinodactyly 30 HP:0030084
47 hypoplastic sacrum 30 HP:0004590

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
prominent forehead
long face
pointed chin
triangular face
large mandible

Genitourinary Internal Genitalia Male:
azoospermia
oligospermia

Skeletal Limbs:
short femoral neck
short long bones, especially femurs and humeri
thick long bones
irregular metaphyseal changes, mild

Head And Neck Ears:
small ears

Growth Weight:
low birth weight

Neurologic Central Nervous System:
hypotonia (rare)
psychomotor delay (rare)

Growth Other:
growth retardation, postnatal

Head And Neck Teeth:
dental anomalies, variable (in some patients)

Genitourinary External Genitalia Female:
clitoral hypoplasia/aplasia (rare)

Skeletal Spine:
vertebral body ossification delay

Skin Nails Hair Hair:
sparse hair after puberty

Endocrine Features:
diabetes mellitus, type 2 (rare)

Skeletal Hands:
brachydactyly
clinodactyly
short metacarpals
cone-shaped epiphyses
small hands
more
Head And Neck Nose:
prominent nose

Skin Nails Hair Nails:
hypoplastic nails

Skeletal Feet:
short metatarsals
short tarsals

Head And Neck Eyes:
hypertelorism (in some patients)
deep-set eyes (in some patients)

Head And Neck Head:
dolichocephaly (rare)
macrocephaly, relative, in childhood
microcephaly in adulthood

Growth Height:
short stature, disproportionate, prenatal onset

Chest Breasts:
underdeveloped breasts (rare)

Skeletal:
bone age delay

Skeletal Pelvis:
hypoplastic pelvis and sacrum

Voice:
unusual, high-pitched voice

Clinical features from OMIM®:

614813 (Updated 08-Dec-2022)

UMLS symptoms related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:


waddling gait

Drugs & Therapeutics for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Search Clinical Trials, NIH Clinical Center for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Genetic Tests for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Genetic tests related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

# Genetic test Affiliating Genes
1 Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome 28 POC1A

Anatomical Context for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Organs/tissues related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

MalaCards : Bone, Skin, Breast, Lymph Node, Eye, Bone Marrow, Smooth Muscle

Publications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Articles related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

(show top 50) (show all 30010)
# Title Authors PMID Year
1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. 62 57 5
22840363 2012
2
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 57 5
22840364 2012
3
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. 57 5
22440536 2012
4
Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. 57
1632447 1992
5
Tissue-specific melt electrowritten polymeric scaffolds for coordinated regeneration of soft and hard periodontal tissues. 62
35574052 2023
6
Reconstruction of Extensive Soft Tissue Defects of Lower Extremity With the Extended Anterolateral Thigh Flap. 62
33626958 2022
7
A Deep Probabilistic Transfer Learning Framework for Soft Sensor Modeling With Missing Data. 62
34129507 2022
8
High-Frequency Ultrasound Imaging Findings of Different Mental Injectable Soft Tissue Fillers. 62
35984469 2022
9
Transoral Robotic Surgery for Cancer of the Soft Palate Posterior Surface. 62
33263437 2022
10
Understanding the Prodromal Period of Necrotizing Soft Tissue Infections of the Genitalia (Fournier's Gangrene) and the Incidence, Duration, and Risk Factors Associated With Potential Missed Opportunities for an Earlier Diagnosis: A Population-based Longitudinal Study. 62
36006046 2022
11
Three-stage limb salvage in tibial fracture related infection with composite bone and soft-tissue defect. 62
34936017 2022
12
Injectable Prevascularized Mature Adipose Tissues (iPAT) to Achieve Long-Term Survival in Soft Tissue Regeneration. 62
36103662 2022
13
The Seasonal and Stage-Specific Expression Patterns of HMGB2 Suggest Its Key Role in Spermatogenesis in the Chinese Soft-Shelled Turtle (Pelodiscus sinensis). 62
35554782 2022
14
Inflammatory prognostic scoring systems are risk factors for surgical site infection following wide local excision of soft tissue sarcoma. 62
34628535 2022
15
Four cases of abdominal expander implantation in adult chronic osteomyelitis of lower extremity with soft tissue defect and literature review. 62
35302286 2022
16
Computational Imaging to Compensate for Soft-Tissue Deformations in Image-Guided Breast Conserving Surgery. 62
35604993 2022
17
Adolescents' perspectives on soft drinks after the introduction of the UK Soft Drinks Industry Levy: A focus group study using reflexive thematic analysis. 62
36089123 2022
18
Soft Tissue Reconstruction for Upper Extremity Necrotizing Soft Tissue Infections. 62
35703211 2022
19
Soft-tissue dimensional change following guided bone regeneration on peri-implant defects using soft-type block or particulate bone substitutes: 1-year outcomes of a randomized controlled clinical trial. 62
36330670 2022
20
Geometry-controlled instabilities for soft-soft adhesive interfaces. 62
36263510 2022
21
A Review of Electrically Driven Soft Actuators for Soft Robotics. 62
36363902 2022
22
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients. 62
35586877 2022
23
Metastatic Rhabdomyosarcoma: Results of the European Paediatric Soft Tissue Sarcoma Study Group MTS 2008 Study and Pooled Analysis With the Concurrent BERNIE Study. 62
35709412 2022
24
Native Oxidation and Complex Magnetic Anisotropy-Dominated Soft Magnetic CoCrFeNi-Based High-Entropy Alloy Thin Films. 62
36202625 2022
25
Reconfigurable Soft Robots by Building Blocks. 62
36192162 2022
26
Cembranoids from the Vietnamese soft coral Sarcophyton ehrenbergi. 62
34935566 2022
27
Kirigami-Inspired Programmable Soft Magnetoresponsive Actuators with Versatile Morphing Modes. 62
36180420 2022
28
Potential of Soft-Shell Rugby Headgear to Mitigate Linear and Rotational Peak Accelerations. 62
35059915 2022
29
A standardized soft tissue release technique to lower the risk of greater trochanteric fractures for the anterior approach in total hip arthroplasty. 62
33954812 2022
30
Soft Microdenticles on Artificial Octopus Sucker Enable Extraordinary Adaptability and Wet Adhesion on Diverse Nonflat Surfaces. 62
35975453 2022
31
Soft nanobrush-directed multifunctional MOF nanoarrays. 62
36335188 2022
32
Exceptional soft tissue preservation reveals a cnidarian affinity for a Cambrian phosphatic tubicolous enigma. 62
36321492 2022
33
Reconstruction of Digit Soft Tissue Defects With the Fourth Common Digital Artery Perforator Flap. 62
34686395 2022
34
The biomechanical efficacy of a dressing with a soft cellulose fluff core in protecting prone surgical patients from chest injuries on the operating table. 62
35243764 2022
35
ASO Visual Abstract: Sentinel Lymph Node Biopsy for Extremity and Truncal Soft Tissue Sarcomas-A Systematic Review of the Literature. 62
36323987 2022
36
Accuracy of 3-dimensional soft tissue prediction for orthognathic surgery in a Chinese population. 62
34400374 2022
37
Three-Fingered Soft Pneumatic Gripper Integrating Joint-Tuning Capability. 62
34705563 2022
38
Soft Actuator with Programmable Design: Modeling, Prototyping, and Applications. 62
35005997 2022
39
Evaporation driven smart patterning of microparticles on a rigid-soft composite substrate. 62
35640455 2022
40
Biomechanical Effects of Adding an Ankle Soft Actuation in a Unilateral Exoskeleton. 62
36291010 2022
41
Trabectedin for Patients with Advanced Soft Tissue Sarcoma: A Non-Interventional, Prospective, Multicenter, Phase IV Trial. 62
36358652 2022
42
Cryogenic contrast-enhanced microCT enables nondestructive 3D quantitative histopathology of soft biological tissues. 62
36266273 2022
43
Constructing Soft Perovskite-Substrate Interfaces for Dynamic Modulation of Perovskite Film in Inverted Solar Cells with Over 6200 Hours Photostability. 62
35975451 2022
44
Comparative morphology and soft tissue histology of the remote-touch bill-tip organ in three ibis species of differing foraging ecology. 62
35938671 2022
45
Three-Dimensional Electrochromic Soft Photonic Crystals Based on MXene-Integrated Blue Phase Liquid Crystals for Bioinspired Visible and Infrared Camouflage. 62
36052706 2022
46
Microscopic and macroscopic comparisons of 0.223 soft point and full metal jacket ammunition with bos taurus scapulae as a proxy to human flat bones. 62
32474434 2022
47
Force Control of a 3D Printed Soft Gripper with Built-In Pneumatic Touch Sensing Chambers. 62
34705564 2022
48
Ultra-Thin Flexible Encapsulating Materials for Soft Bio-Integrated Electronics. 62
36031395 2022
49
Impact of Component Alignment and Soft Tissue Release on 2-Year Outcomes in Total Knee Arthroplasty. 62
35533822 2022
50
Production of the yolk protein precursor vitellogenin is mediated by target of rapamycin (TOR) in the soft tick Ornithodoros moubata (Acari: Argasidae). 62
35254737 2022

Variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

ClinVar genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

5 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POC1A NM_015426.5(POC1A):c.850dup (p.Glu284fs) DUP Pathogenic
996335 rs770990008 GRCh37: 3:52159160-52159161
GRCh38: 3:52125144-52125145
2 POC1A NM_015426.5(POC1A):c.593_605del (p.Ser198fs) DEL Pathogenic
996336 rs1698348226 GRCh37: 3:52179936-52179948
GRCh38: 3:52145920-52145932
3 POC1A NM_015426.5(POC1A):c.981+1G>A SNV Pathogenic
1192285 GRCh37: 3:52156394-52156394
GRCh38: 3:52122378-52122378
4 POC1A NM_015426.5(POC1A):c.667_668dup (p.Gln223fs) DUP Pathogenic
1323481 GRCh37: 3:52179872-52179873
GRCh38: 3:52145856-52145857
5 POC1A NM_015426.5(POC1A):c.512T>C (p.Leu171Pro) SNV Pathogenic
37063 rs397514488 GRCh37: 3:52181055-52181055
GRCh38: 3:52147039-52147039
6 POC1A NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) SNV Pathogenic
37062 rs397514487 GRCh37: 3:52183866-52183866
GRCh38: 3:52149850-52149850
7 POC1A NM_015426.5(POC1A):c.64G>T (p.Val22Phe) SNV Likely Pathogenic
623370 rs918352190 GRCh37: 3:52185071-52185071
GRCh38: 3:52151055-52151055
8 POC1A NM_015426.5(POC1A):c.253G>C (p.Val85Leu) SNV Likely Pathogenic
666330 rs112213336 GRCh37: 3:52183854-52183854
GRCh38: 3:52149838-52149838
9 POC1A NM_015426.5(POC1A):c.82A>G (p.Ser28Gly) SNV Uncertain Significance
1029399 rs141061033 GRCh37: 3:52185053-52185053
GRCh38: 3:52151037-52151037
10 POC1A NM_015426.5(POC1A):c.836T>G (p.Phe279Cys) SNV Uncertain Significance
587474 rs1559836324 GRCh37: 3:52159175-52159175
GRCh38: 3:52125159-52125159
11 POC1A NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) SNV Uncertain Significance
211926 rs146976547 GRCh37: 3:52172214-52172214
GRCh38: 3:52138198-52138198
12 POC1A NM_015426.5(POC1A):c.79_87del (p.Phe27_Ile29del) DEL Uncertain Significance
1172532 GRCh37: 3:52185048-52185056
GRCh38: 3:52151032-52151040
13 POC1A NM_015426.5(POC1A):c.972G>A (p.Met324Ile) SNV Uncertain Significance
1029400 rs1289690139 GRCh37: 3:52156404-52156404
GRCh38: 3:52122388-52122388
14 POC1A NM_015426.5(POC1A):c.545C>T (p.Ser182Leu) SNV Uncertain Significance
1032691 rs1698387096 GRCh37: 3:52181022-52181022
GRCh38: 3:52147006-52147006
15 POC1A NM_015426.5(POC1A):c.586C>T (p.His196Tyr) SNV Uncertain Significance
1032692 rs144052887 GRCh37: 3:52179955-52179955
GRCh38: 3:52145939-52145939

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

73
# Symbol AA change Variation ID SNP ID
1 POC1A p.Leu171Pro VAR_068884 rs397514488

Expression for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Search GEO for disease gene expression data for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis.

Pathways for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

GO Terms for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Sources for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....