Acromesomelic Dysplasia 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Acromesomelic Dysplasia 3

MalaCards integrated aliases for Acromesomelic Dysplasia 3:

Name: Acromesomelic Dysplasia 3 ⁵⁷ ⁷³ ²⁸ ⁵

Chondrodysplasia, Acromesomelic, with or Without Genital Anomalies ⁵⁷ ⁷³

Acromesomelic Dysplasia, Demirhan Type ⁵⁷ ⁷³

Amd3 ⁵⁷ ⁷³

Amdd ⁵⁷ ⁷³

Acromesomelic Chondrodysplasia, with Genital Anomalies ⁷³

Demirhan-Type Acromesomelic Dysplasia ¹¹

Acromesomelic Dysplasia-3 ¹¹

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
allelic to brachydactyly, type a2

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Reproductive diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0081237

OMIM® ⁵⁷ 609441

OMIM Phenotypic Series ⁵⁷ PS602875

MeSH ⁴³ D004392 D010009

MedGen ⁴⁰ C1836182 C4225404

SNOMED-CT via HPO ⁶⁹ 123983008 249765007 249808002 more

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Summaries for Acromesomelic Dysplasia 3

UniProtKB/Swiss-Prot: ⁷³ A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones.

MalaCards based summary: Acromesomelic Dysplasia 3, also known as chondrodysplasia, acromesomelic, with or without genital anomalies, is related to brachydactyly, type a2 and brachydactyly. An important gene associated with Acromesomelic Dysplasia 3 is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B). Affiliated tissues include bone, uterus and amygdala, and related phenotypes are delayed skeletal maturation and primary amenorrhea

Disease Ontology: ¹¹ An acromesomelic dysplasia that has material basis in homozygous mutation in the BMPR1B gene on chromosome 4q22.

More information from OMIM: 609441 PS602875

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Related Diseases for Acromesomelic Dysplasia 3

Diseases in the Acromesomelic Dysplasia family:

Acromesomelic Dysplasia 2a	Acromesomelic Dysplasia 2c
Acromesomelic Dysplasia 2b	Acromesomelic Dysplasia 1
Acromesomelic Dysplasia 3	Acromesomelic Dysplasia 4

Diseases related to Acromesomelic Dysplasia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	brachydactyly, type a2	10.3
2	brachydactyly	10.3
3	ovarian disease	10.3
4	hypogonadism	10.3
5	chondrodysplasia acromesomelic with genital anomalies	10.3

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia 3:

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Symptoms & Phenotypes for Acromesomelic Dysplasia 3

Human phenotypes related to Acromesomelic Dysplasia 3:

³⁰ (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	delayed skeletal maturation ³⁰	Very rare (1%)	HP:0002750
2	primary amenorrhea ³⁰	Very rare (1%)	HP:0000786
3	short toe ³⁰	Very rare (1%)	HP:0001831
4	brachydactyly ³⁰	Very rare (1%)	HP:0001156
5	hypoplasia of the ulna ³⁰	Very rare (1%)	HP:0003022
6	short 1st metacarpal ³⁰	Very rare (1%)	HP:0010034
7	disproportionate short-limb short stature ³⁰	Very rare (1%)	HP:0008873
8	broad foot ³⁰	Very rare (1%)	HP:0001769
9	hypergonadotropic hypogonadism ³⁰	Very rare (1%)	HP:0000815
10	bilateral talipes equinovarus ³⁰	Very rare (1%)	HP:0001776
11	fibular aplasia ³⁰	Very rare (1%)	HP:0002990
12	short phalanx of finger ³⁰	Very rare (1%)	HP:0009803
13	radial deviation of finger ³⁰	Very rare (1%)	HP:0009466
14	hypoplasia of the uterus ³⁰	Very rare (1%)	HP:0000013
15	carpal synostosis ³⁰	Very rare (1%)	HP:0009702
16	short femoral neck ³⁰	Very rare (1%)	HP:0100864
17	elevated circulating follicle stimulating hormone level ³⁰	Very rare (1%)	HP:0008232
18	elevated circulating luteinizing hormone level ³⁰	Very rare (1%)	HP:0011969
19	widened proximal tibial metaphyses ³⁰	Very rare (1%)	HP:0005028
20	tarsal synostosis ³⁰	Very rare (1%)	HP:0008368
21	aplasia of the proximal phalanx of the 2nd finger ³⁰	Very rare (1%)	HP:0009596
22	talipes equinovarus ³⁰		HP:0001762
23	short finger ³⁰		HP:0009381

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Endocrine Features:
primary amenorrhea
hypergonadotropic hypogonadism

Skeletal Hands:
radially deviated fingers
carpal bone fusion
severe brachydactyly
hypoplastic phalanges (fingers 2-5)
absent proximal phalanges (finger 2)
more

Skeletal Pelvis:
short femoral necks

Genitourinary Internal Genitalia Female:
hypoplastic uterus (in some patients)
absent ovaries (in some patients)

Skeletal Limbs:
fibular aplasia
widened proximal tibial metaphyses
short ulna

Skeletal Feet:
clubfeet
short toes
tarsal bone fusion
small broad feet

Growth Height:
short limb dwarfism, disproportionate

Clinical features from OMIM®:

609441 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Acromesomelic Dysplasia 3

Search Clinical Trials, NIH Clinical Center for Acromesomelic Dysplasia 3

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Genetic Tests for Acromesomelic Dysplasia 3

Genetic tests related to Acromesomelic Dysplasia 3:

#	Genetic test	Affiliating Genes
1	Acromesomelic Dysplasia 3 ²⁸	BMPR1B

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Anatomical Context for Acromesomelic Dysplasia 3

Organs/tissues related to Acromesomelic Dysplasia 3:

MalaCards : Bone, Uterus, Amygdala

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Publications for Acromesomelic Dysplasia 3

Articles related to Acromesomelic Dysplasia 3:

(show all 29)

#	Title	Authors	PMID	Year
1	A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. ⁶² ⁵⁷ ⁵	Demirhan O...Lehmann K	15805157	2005
2	A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. ⁵⁷ ⁵	Stange K...Borck G	26105076	2015
3	Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. ⁵⁷ ⁵	Graul-Neumann LM...Seemann P	24129431	2014
4	Aberrant intrinsic hippocampal and orbitofrontal connectivity in drug-naive adolescent patients with major depressive disorder. ⁶²	Zhou Z...Huang X	36115899	2022
5	Strengthening and monitoring health system's capacity to improve availability, utilization and quality of emergency obstetric care in northern Nigeria. ⁶²	Kabo I...Sadauki H	30726275	2019
6	Practice of emergency obstetric care signal functions and reasons for non-provision among health centers and hospitals in Lake and Western zones of Tanzania. ⁶²	Maswanya E...Massaga J	30518357	2018
7	Design of Azomethine Diols for Efficient Self-Healing of Strong Polyurethane Elastomers. ⁶²	Lee DW...Lee DS	30423985	2018
8	Anti-Impulse-Noise Edge Detection via Anisotropic Morphological Directional Derivatives. ⁶²	Peng-Lang Shui...Fu-Ping Wang	28715330	2017
9	Facial emotion recognition, theory of mind and the role of facial mimicry in depression. ⁶²	Zwick JC...Wolkenstein L	28024224	2017
10	Maximizing the productivity of the microalgae Scenedesmus AMDD cultivated in a continuous photobioreactor using an online flow rate control. ⁶²	McGinn PJ...Tartakovsky B	27628425	2017
11	Quetiapine Extended Release Open-Label Treatment Associated Changes in Amygdala Activation and Connectivity in Anxious Depression: An fMRI Study. ⁶²	Altinay M...Anand A	27768670	2016
12	Emergency obstetric and neonatal care needs assessment: Results of the 2010 and 2014 surveys in Burkina Faso. ⁶²	Kouanda S...Ouedraogo L	27836077	2016
13	Developing a genetic manipulation system for the Antarctic archaeon, Halorubrum lacusprofundi: investigating acetamidase gene function. ⁶²	Liao Y...Cavicchioli R	27708407	2016
14	A randomized, placebo-controlled pilot trial of the delta opioid receptor agonist AZD2327 in anxious depression. ⁶²	Richards EM...Zarate CA	26728893	2016
15	Acidogenic fermentation of Scenedesmus sp.-AMDD: Comparison of volatile fatty acids yields between mesophilic and thermophilic conditions. ⁶²	Gruhn M...Guiot SR	26551650	2016
16	White matter abnormalities in major depressive disorder with melancholic and atypical features: A diffusion tensor imaging study. ⁶²	Ota M...Kunugi H	25384997	2015
17	Simultaneous remediation of nutrients from liquid anaerobic digestate and municipal wastewater by the microalga Scenedesmus sp. AMDD grown in continuous chemostats. ⁶²	Dickinson KE...McGinn PJ	25363842	2015
18	Animal models of disc degeneration and major genetic strategies. ⁶²	Sun F...Zhang YG	23703425	2013
19	AMDD: antimicrobial drug database. ⁶²	Danishuddin M...Khan AU	23317704	2012
20	Availability and quality of emergency obstetric and neonatal care services in Afghanistan. ⁶²	Kim YM...Zaka N	22196990	2012
21	Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. ⁶²	Patil R...Depriest JL	19252955	2009
22	The challenges of improving emergency obstetric care in two rural districts in Mali. ⁶²	Otchere SA...Kayo A	17904144	2007
23	Making EmOC a reality--CARE's experiences in areas of high maternal mortality in Africa. ⁶²	Kayongo M...Madili M	16442536	2006
24	Strengthening emergency obstetric care in Ayacucho, Peru. ⁶²	Kayongo M...Bailey P	16442113	2006
25	Improving the availability of emergency obstetric care in conflict-affected settings. ⁶²	Krause SK...Friedlander E	19153908	2006
26	Planning and implementing a program of renovations of emergency obstetric care facilities: experiences in Rajasthan, India. ⁶²	Dwivedi H...Srinivasan V	12384278	2002
27	The AMDD program: history, focus and structure. ⁶²	Maine D...Rosenfield A	11502285	2001
28	Structure and activity of mouse S-adenosylmethionine decarboxylase gene promoters and properties of the encoded proteins. ⁶²	Nishimura K...Igarashi K	9620866	1998
29	Depression and axis II disorders: comorbidity and relationship to cooperativeness. ⁶²	Lott VM...Dunner DL	9166654	1996

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Genes for Acromesomelic Dysplasia 3

Genes related to Acromesomelic Dysplasia 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	1332.73	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	15805157 24129431 26105076

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Variations for Acromesomelic Dysplasia 3

ClinVar genetic disease variations for Acromesomelic Dysplasia 3:

⁵ (show top 50) (show all 100)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BMPR1B	NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)	SNV	Pathogenic	446284	rs1553941890	GRCh37: 4:96051067-96051067 GRCh38: 4:95129916-95129916
2	BMPR1B	NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs)	DEL	Pathogenic	6557	rs863223287	GRCh37: 4:96044970-96044977 GRCh38: 4:95123819-95123826
3	BMPR1B	NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter)	SNV	Pathogenic	217255	rs863225042	GRCh37: 4:96051084-96051084 GRCh38: 4:95129933-95129933
4	BMPR1B	NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)	SNV	Pathogenic	217256	rs745854387	GRCh37: 4:96025666-96025666 GRCh38: 4:95104515-95104515
5	BMPR1B	NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg)	SNV	Pathogenic	217254	rs863225041	GRCh37: 4:96035884-96035884 GRCh38: 4:95114733-95114733
6	BMPR1B	NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)	SNV	Likely Pathogenic	689613	rs1177728492	GRCh37: 4:96052575-96052575 GRCh38: 4:95131424-95131424
7	BMPR1B	NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp)	SNV	Uncertain Significance	1679389		GRCh37: 4:96035971-96035971 GRCh38: 4:95114820-95114820
8	BMPR1B	NM_001203.3(BMPR1B):c.1118G>A (p.Gly373Asp)	SNV	Uncertain Significance	1683474		GRCh37: 4:96069940-96069940 GRCh38: 4:95148789-95148789
9	BMPR1B	NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val)	SNV	Uncertain Significance	850714	rs761226009	GRCh37: 4:96051151-96051151 GRCh38: 4:95130000-95130000
10	BMPR1B	NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser)	SNV	Uncertain Significance	350123	rs577188671	GRCh37: 4:96069924-96069924 GRCh38: 4:95148773-95148773
11	BMPR1B	NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu)	SNV	Uncertain Significance	638863	rs766791531	GRCh37: 4:96051040-96051040 GRCh38: 4:95129889-95129889
12	BMPR1B	NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys)	SNV	Uncertain Significance	639889	rs1579119447	GRCh37: 4:96046163-96046163 GRCh38: 4:95125012-95125012
13	BMPR1B	NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu)	SNV	Uncertain Significance	653555	rs376819253	GRCh37: 4:96051153-96051153 GRCh38: 4:95130002-95130002
14	BMPR1B	NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg)	SNV	Uncertain Significance	1008542	rs145700191	GRCh37: 4:96025649-96025649 GRCh38: 4:95104498-95104498
15	BMPR1B	NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser)	SNV	Uncertain Significance	1010451	rs1225550138	GRCh37: 4:96036923-96036923 GRCh38: 4:95115772-95115772
16	BMPR1B	NM_001203.3(BMPR1B):c.1075A>G (p.Ser359Gly)	SNV	Uncertain Significance	1041425	rs201289177	GRCh37: 4:96052662-96052662 GRCh38: 4:95131511-95131511
17	BMPR1B	NM_001203.3(BMPR1B):c.745C>G (p.Gln249Glu)	SNV	Uncertain Significance	1064229		GRCh37: 4:96051172-96051172 GRCh38: 4:95130021-95130021
18	BMPR1B	NM_001203.3(BMPR1B):c.92G>A (p.Arg31His)	SNV	Uncertain Significance	350113	rs200035802	GRCh37: 4:96025667-96025667 GRCh38: 4:95104516-95104516
19	BMPR1B	NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	SNV	Uncertain Significance	350124	rs778257341	GRCh37: 4:96069927-96069927 GRCh38: 4:95148776-95148776
20	BMPR1B	NM_001203.3(BMPR1B):c.769A>G (p.Asn257Asp)	SNV	Uncertain Significance	418063	rs201034260	GRCh37: 4:96051196-96051196 GRCh38: 4:95130045-95130045
21	BMPR1B	NM_001203.3(BMPR1B):c.497A>G (p.Asp166Gly)	SNV	Uncertain Significance	1316061		GRCh37: 4:96046184-96046184 GRCh38: 4:95125033-95125033
22	BMPR1B	NC_000004.11:g.(?_96069879)_(96075824_?)dup	DUP	Uncertain Significance	1373779		GRCh37: 4:96069879-96075824 GRCh38:
23	BMPR1B	NM_001203.3(BMPR1B):c.1367G>A (p.Arg456Gln)	SNV	Uncertain Significance	1383565		GRCh37: 4:96073908-96073908 GRCh38: 4:95152757-95152757
24	BMPR1B	NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg)	SNV	Uncertain Significance	1405714		GRCh37: 4:96025590-96025590 GRCh38: 4:95104439-95104439
25	BMPR1B	NM_001203.3(BMPR1B):c.901A>G (p.Met301Val)	SNV	Uncertain Significance	1489806		GRCh37: 4:96052488-96052488 GRCh38: 4:95131337-95131337
26	BMPR1B	NM_001203.3(BMPR1B):c.487T>A (p.Leu163Ile)	SNV	Uncertain Significance	1501366		GRCh37: 4:96046174-96046174 GRCh38: 4:95125023-95125023
27	BMPR1B	NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys)	SNV	Uncertain Significance	1514600		GRCh37: 4:96051097-96051097 GRCh38: 4:95129946-95129946
28	BMPR1B	NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly)	SNV	Uncertain Significance	905062	rs1190618723	GRCh37: 4:96070056-96070056 GRCh38: 4:95148905-95148905
29	BMPR1B	NM_001203.3(BMPR1B):c.508A>G (p.Ile170Val)	SNV	Uncertain Significance	1001619	rs778170724	GRCh37: 4:96046195-96046195 GRCh38: 4:95125044-95125044
30	BMPR1B	NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn)	SNV	Uncertain Significance	1005167	rs1422671894	GRCh37: 4:96044969-96044969 GRCh38: 4:95123818-95123818
31	BMPR1B	NM_001203.3(BMPR1B):c.1235G>A (p.Arg412Lys)	SNV	Uncertain Significance	1005597	rs561948192	GRCh37: 4:96070057-96070057 GRCh38: 4:95148906-95148906
32	BMPR1B	NM_001203.3(BMPR1B):c.829C>G (p.Leu277Val)	SNV	Uncertain Significance	1007561	rs755942515	GRCh37: 4:96052416-96052416 GRCh38: 4:95131265-95131265
33	BMPR1B	NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr)	SNV	Uncertain Significance	1011960	rs561117066	GRCh37: 4:96045002-96045002 GRCh38: 4:95123851-95123851
34	BMPR1B	NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)	SNV	Uncertain Significance Likely Benign	906582	rs150974461	GRCh37: 4:96025586-96025586 GRCh38: 4:95104435-95104435
35	BMPR1B	NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)	SNV	Uncertain Significance	1043555	rs143885868	GRCh37: 4:96025591-96025591 GRCh38: 4:95104440-95104440
36	BMPR1B	NM_001203.3(BMPR1B):c.1366C>T (p.Arg456Trp)	SNV	Uncertain Significance	1046226	rs780280883	GRCh37: 4:96073907-96073907 GRCh38: 4:95152756-95152756
37	BMPR1B	NM_001203.3(BMPR1B):c.1174T>G (p.Phe392Val)	SNV	Uncertain Significance	1060472		GRCh37: 4:96069996-96069996 GRCh38: 4:95148845-95148845
38	BMPR1B	NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser)	SNV	Uncertain Significance	350120	rs200198618	GRCh37: 4:96051189-96051189 GRCh38: 4:95130038-95130038
39	BMPR1B	NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg)	SNV	Uncertain Significance	522761	rs757312834	GRCh37: 4:96025655-96025655 GRCh38: 4:95104504-95104504
40	BMPR1B	NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)	SNV	Uncertain Significance	1357550		GRCh37: 4:96052479-96052479 GRCh38: 4:95131328-95131328
41	BMPR1B	NM_001203.3(BMPR1B):c.895A>G (p.Lys299Glu)	SNV	Uncertain Significance	1320798		GRCh37: 4:96052482-96052482 GRCh38: 4:95131331-95131331
42	BMPR1B	NM_001203.3(BMPR1B):c.580C>G (p.Leu194Val)	SNV	Uncertain Significance	1400741		GRCh37: 4:96046267-96046267 GRCh38: 4:95125116-95125116
43	BMPR1B	NM_001203.3(BMPR1B):c.470C>G (p.Pro157Arg)	SNV	Uncertain Significance	1398984		GRCh37: 4:96046157-96046157 GRCh38: 4:95125006-95125006
44	BMPR1B	NM_001203.3(BMPR1B):c.734C>A (p.Thr245Lys)	SNV	Uncertain Significance	1364353		GRCh37: 4:96051161-96051161 GRCh38: 4:95130010-95130010
45	BMPR1B	NM_001203.3(BMPR1B):c.724T>C (p.Phe242Leu)	SNV	Uncertain Significance	1418665		GRCh37: 4:96051151-96051151 GRCh38: 4:95130000-95130000
46	BMPR1B	NM_001203.3(BMPR1B):c.1081A>G (p.Thr361Ala)	SNV	Uncertain Significance	1435152		GRCh37: 4:96069903-96069903 GRCh38: 4:95148752-95148752
47	BMPR1B	NM_001203.3(BMPR1B):c.907A>C (p.Lys303Gln)	SNV	Uncertain Significance	1497633		GRCh37: 4:96052494-96052494 GRCh38: 4:95131343-95131343
48	BMPR1B	NM_001203.3(BMPR1B):c.1100C>G (p.Pro367Arg)	SNV	Uncertain Significance	1489198		GRCh37: 4:96069922-96069922 GRCh38: 4:95148771-95148771
49	BMPR1B	NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	SNV	Uncertain Significance	1512018		GRCh37: 4:96025618-96025618 GRCh38: 4:95104467-95104467
50	BMPR1B	NM_001203.3(BMPR1B):c.737A>T (p.Glu246Val)	SNV	Uncertain Significance	1513747		GRCh37: 4:96051164-96051164 GRCh38: 4:95130013-95130013

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia 3:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	BMPR1B	p.Cys53Arg	VAR_075521	rs863225041

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Expression for Acromesomelic Dysplasia 3

Search GEO for disease gene expression data for Acromesomelic Dysplasia 3.

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Pathways for Acromesomelic Dysplasia 3

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GO Terms for Acromesomelic Dysplasia 3

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Sources for Acromesomelic Dysplasia 3

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

AMD3 MCID: ACR129 MIFTS: 32	Acromesomelic Dysplasia 3 (AMD3) Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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Acromesomelic Dysplasia 3 (AMD3)

Aliases & Classifications for Acromesomelic Dysplasia 3

MalaCards integrated aliases for Acromesomelic Dysplasia 3:

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OMIM®:

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Summaries for Acromesomelic Dysplasia 3

Related Diseases for Acromesomelic Dysplasia 3

Diseases in the Acromesomelic Dysplasia family:

Diseases related to Acromesomelic Dysplasia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Acromesomelic Dysplasia 3:

Symptoms & Phenotypes for Acromesomelic Dysplasia 3

Human phenotypes related to Acromesomelic Dysplasia 3:

Symptoms via clinical synopsis from OMIM®:

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Drugs & Therapeutics for Acromesomelic Dysplasia 3

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Genes related to Acromesomelic Dysplasia 3 (1 elite genes):

Variations for Acromesomelic Dysplasia 3

ClinVar genetic disease variations for Acromesomelic Dysplasia 3:

UniProtKB/Swiss-Prot genetic disease variations for Acromesomelic Dysplasia 3:

Expression for Acromesomelic Dysplasia 3

Pathways for Acromesomelic Dysplasia 3

GO Terms for Acromesomelic Dysplasia 3

Sources for Acromesomelic Dysplasia 3