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MBL associated serine protease 1

Summary

Gene Symbol

MASP1

Aliases

C4/C2 activating component of Ra-reactive factor
MAP-1
MASP
MASP-3
Map44
mannose-binding lectin-associated serine protease 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5648

HGNC

6901

KEGG Gene ID

hsa:5648

PubChem

5648

Alliance of Genome Resources

HGNC:6901

JoGo

MASP1

TogoVar

MASP1

Annotation

Keyword

3D-structure
Alternative splicing
Autocatalytic cleavage
Calcium
Complement activation lectin pathway
Direct protein sequencing
Disease variant
Disulfide bond
EGF-like domain
Glycoprotein
Hydroxylation
Metal-binding
Proteomics identification
Reference proteome
Repeat
Secreted
Serine protease
Signal
Sushi

Proteins

Displaying 1 entry
UniProt	Protein Name
P48740	Complement-activating component of Ra-reactive factor Mannose-binding lectin-associated serine protease 1 Mannose-binding protein-associated serine protease Ra-reactive factor serine protease p100 Serine protease 5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
complement activation, lectin pathway	IDA
complement activation, lectin pathway	IMP
complement activation, lectin pathway	IBA
complement activation, lectin pathway	IEA
cell surface pattern recognition receptor signaling pathway	NAS

GO Hierarchy

biological process

immune system process [inference]

immune effector process [inference]

complement activation

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

immune response [inference]

humoral immune response [inference]

complement activation

innate immune response [inference]

cellular process [inference]

signal transduction [inference]

immune response-regulating signaling pathway [inference]

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-regulating cell surface receptor signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

cell surface receptor signaling pathway [inference]

immune response-regulating cell surface receptor signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis

protein processing [inference]

zymogen activation

protein maturation

protein processing [inference]

zymogen activation

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis

protein processing [inference]

zymogen activation

protein maturation

protein processing [inference]

zymogen activation

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response [inference]

response to stimulus [inference]

response to stress [inference]

defense response [inference]

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response [inference]

immune response [inference]

humoral immune response [inference]

complement activation

innate immune response [inference]

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response [inference]

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

defense response to other organism [inference]

defense response to symbiont [inference]

innate immune response [inference]

biological regulation [inference]

regulation of biological process [inference]

regulation of immune system process [inference]

negative regulation of immune system process [inference]

negative regulation of immune effector process [inference]

negative regulation of complement activation

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

positive regulation of immune system process [inference]

positive regulation of immune effector process [inference]

positive regulation of opsonization

positive regulation of immune response [inference]

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of immune effector process [inference]

negative regulation of immune effector process [inference]

negative regulation of complement activation

positive regulation of immune effector process [inference]

positive regulation of opsonization

regulation of complement activation [inference]

negative regulation of complement activation

regulation of opsonization [inference]

positive regulation of opsonization

regulation of immune response [inference]

immune response-regulating signaling pathway [inference]

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-regulating cell surface receptor signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of humoral immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of complement activation [inference]

negative regulation of complement activation

regulation of innate immune response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

positive regulation of immune response [inference]

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of localization [inference]

regulation of transport [inference]

positive regulation of transport [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of phagocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

positive regulation of biological process [inference]

positive regulation of immune system process [inference]

positive regulation of immune effector process [inference]

positive regulation of opsonization

positive regulation of immune response [inference]

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

positive regulation of response to stimulus [inference]

positive regulation of response to biotic stimulus [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of defense response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of response to external stimulus [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of immune response [inference]

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of transport [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

negative regulation of biological process [inference]

negative regulation of immune system process [inference]

negative regulation of immune effector process [inference]

negative regulation of complement activation

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

negative regulation of response to stimulus [inference]

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of response to stimulus [inference]

regulation of response to biotic stimulus [inference]

positive regulation of response to biotic stimulus [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of innate immune response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of response to external stimulus [inference]

positive regulation of response to external stimulus [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of innate immune response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of response to biotic stimulus [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of defense response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of response to external stimulus [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of immune response [inference]

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of immune response [inference]

immune response-regulating signaling pathway [inference]

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-regulating cell surface receptor signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of humoral immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of complement activation [inference]

negative regulation of complement activation

regulation of innate immune response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

positive regulation of immune response [inference]

activation of immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

complement activation

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of response to stress [inference]

regulation of defense response [inference]

positive regulation of defense response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of innate immune response [inference]

positive regulation of innate immune response [inference]

activation of innate immune response [inference]

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

regulation of cellular process [inference]

signal transduction [inference]

immune response-regulating signaling pathway [inference]

immune response-activating signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

innate immune response-activating signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

pattern recognition receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

immune response-regulating cell surface receptor signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

cell surface receptor signaling pathway [inference]

immune response-regulating cell surface receptor signaling pathway [inference]

immune response-activating cell surface receptor signaling pathway [inference]

innate immune response activating cell surface receptor signaling pathway [inference]

cell surface pattern recognition receptor signaling pathway

positive regulation of cellular process [inference]

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of cellular component organization [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of phagocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

positive regulation of cellular component organization [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

positive regulation of endocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of phagocytosis [inference]

positive regulation of phagocytosis [inference]

positive regulation of opsonization

regulation of opsonization [inference]

positive regulation of opsonization

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
extracellular region	EXP
extracellular region	NAS
extracellular region	TAS
extracellular region	IDA
extracellular region	IBA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

other organism part [inference]

symbiont cell surface

side of membrane [inference]

external side of plasma membrane

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
serine-type endopeptidase activity	IDA
serine-type endopeptidase activity	IBA
serine-type endopeptidase activity	IEA
calcium ion binding	IDA
calcium ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

peptidase activity

endopeptidase activity [inference]

serine-type endopeptidase activity

serine-type peptidase activity [inference]

serine-type endopeptidase activity

serine hydrolase activity [inference]

serine-type peptidase activity [inference]

serine-type endopeptidase activity

catalytic activity, acting on a protein [inference]

peptidase activity

endopeptidase activity [inference]

serine-type endopeptidase activity

serine-type peptidase activity [inference]

serine-type endopeptidase activity

binding [inference]

protein binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

calcium-dependent protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060575	3MC syndrome 1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 58 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000252	Microcephaly
HP:0000260	Wide anterior fontanel
HP:0000316	Hypertelorism
HP:0000365	Hearing impairment
HP:0000369	Low-set ears