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	maple syrup urine disease

Disease ID	27
Disease	maple syrup urine disease
Definition	An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
Synonym	bckd - branched chain alpha-ketoacid dehydrogenase deficiency bckd deficiency branched chain alpha keto acid dehydrogenase deficiency branched chain ketoacid dehydrogenase deficiency branched chain ketoaciduria branched-chain alpha-keto acid dehydrogenase deficiency branched-chain ketoaciduria branched-chain ketoacidurias branched-chain ketonuria disease maple syrup urine keto acid decarboxylase deficiency ketoacid decarboxylase deficiency ketoacidaemia ketoacidemia ketoaciduria, branched-chain ketoacidurias, branched-chain maple syrup disease maple syrup urine dis maple syrup urine disease (disorder) maple syrup urine disease [disease/finding] maple syrup urine disease, nos msu msud msud (maple syrup urine disease) msud - maple syrup urine disease msud maple syrup urine dis oxo-acid decarboxylase deficiency
Orphanet	ORPHANET:511
OMIM	OMIM:248600
DOID	DOID:9269
UMLS	C0024776
MeSH	D008375
SNOMED-CT	SNOMEDCT_US_2016_09_01:27718001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0679466 \| cognitive deficits \| 1 C0027765 \| neurological disorder \| 1 C0030305 \| pancreatitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 1738 \| DLD \| CTD_human;GHR 594 \| BCKDHB \| CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 1629 \| DBT \| CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 593 \| BCKDHA \| CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 587 \| BCAT2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 593 \| BCKDHA \| CIPHER;CTD_human 594 \| BCKDHB \| CIPHER;CTD_human 1629 \| DBT \| CIPHER;CTD_human 1738 \| DLD \| CTD_human 587 \| BCAT2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 31 \| ACACA \| 1.459 \| DISEASES 32 \| ACACB \| 2.052 \| DISEASES 36 \| ACADSB \| 3.112 \| DISEASES 586 \| BCAT1 \| 3.29 \| DISEASES 587 \| BCAT2 \| 4.751 \| DISEASES 53335 \| BCL11A \| 1.675 \| DISEASES 627 \| BDNF \| 2.095 \| DISEASES 831 \| CAST \| 1.641 \| DISEASES 875 \| CBS \| 2.268 \| DISEASES 1491 \| CTH \| 1.602 \| DISEASES 1629 \| DBT \| 3.763 \| DISEASES 1644 \| DDC \| 1.361 \| DISEASES 2108 \| ETFA \| 2.061 \| DISEASES 2271 \| FH \| 1.419 \| DISEASES 2328 \| FMO3 \| 2.561 \| DISEASES 2878 \| GPX3 \| 1.402 \| DISEASES 3033 \| HADH \| 3.221 \| DISEASES 3030 \| HADHA \| 1.018 \| DISEASES 3155 \| HMGCL \| 3.923 \| DISEASES 3329 \| HSPD1 \| 2.588 \| DISEASES 3908 \| LAMA2 \| 1.323 \| DISEASES 3939 \| LDHA \| 2.019 \| DISEASES 64087 \| MCCC2 \| 3.12 \| DISEASES 219541 \| MED19 \| 2.382 \| DISEASES 8972 \| MGAM \| 1.118 \| DISEASES 4803 \| NGF \| 1.015 \| DISEASES 4810 \| NHS \| 2.908 \| DISEASES 4942 \| OAT \| 1.217 \| DISEASES 5053 \| PAH \| 3.596 \| DISEASES 5096 \| PCCB \| 2.228 \| DISEASES 5277 \| PIGA \| 1.357 \| DISEASES 56980 \| PRDM10 \| 1.112 \| DISEASES 387 \| RHOA \| 1.246 \| DISEASES 6281 \| S100A10 \| 1.883 \| DISEASES 10165 \| SLC25A13 \| 3.172 \| DISEASES 348932 \| SLC6A18 \| 2.899 \| DISEASES 26812 \| SNORD37 \| 4.407 \| DISEASES 55553 \| SOX6 \| 2.125 \| DISEASES 54457 \| TAF7L \| 3.062 \| DISEASES 6898 \| TAT \| 1.614 \| DISEASES 23038 \| WDTC1 \| 1.809 \| DISEASES
Locus	(Waiting for update.)

Disease ID	27
Disease	maple syrup urine disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:25) HP:0001263 \| Global developmental delay HP:0001507 \| Abnormal growth HP:0000738 \| Sensory hallucination HP:0001946 \| High levels of ketone bodies HP:0000600 \| Abnormality of the pharynx HP:0001251 \| Ataxia HP:0001254 \| Lethargy HP:0001943 \| Hypoglycemia HP:0001315 \| Reduced tendon reflexes HP:0004374 \| Hemiplegia/hemiparesis HP:0001276 \| Hypertonia HP:0001249 \| Mental retardation HP:0008872 \| Feeding difficulties in infancy HP:0001252 \| Hypotonia HP:0001250 \| Seizures HP:0002093 \| Respiratory insufficiency HP:0003128 \| Lactic acidosis HP:0001733 \| Pancreatic inflammation HP:0001259 \| Coma HP:0001608 \| Abnormality of the voice HP:0008344 \| Elevated plasma branched chain amino acids HP:0002181 \| Cerebral edema HP:0001249 \| Intellectual disability HP:0001252 \| Muscular hypotonia HP:0002013 \| Emesis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:14) HP:0001298 \| Encephalopathy \| 2 HP:0100022 \| Movement disorder \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0001250 \| Seizures \| 1 HP:0006846 \| Acute encephalopathy \| 1 HP:0002751 \| Kyphoscoliosis \| 1 HP:0012531 \| Pain \| 1 HP:0002500 \| Leukoaraiosis \| 1 HP:0001257 \| Spasticity \| 1 HP:0002181 \| Cerebral edema \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0001259 \| Coma \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0000969 \| Dropsy \| 1

Disease ID	27
Disease	maple syrup urine disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C1963101 \| encephalopathy C1306587 \| acute encephalopathy C0848782 \| urological impairment C0456909 \| blindness C0392549 \| cerebral palsy C0270921 \| axonal neuropathy C0029089 \| ophthalmoplegia C0020615 \| hypoglycemia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0085584 \| encephalopathy \| 2 C1306587 \| acute encephalopathy \| 1

Manually Genotype(Total Manually Genotypes:4)
Gene	Mutation	DOI	Article Title
BCKDHA	Ex2_4dup	doi:10.1038/gim.2013.197	Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease
BCKDHA	c.392A>G	doi:10.1038/gim.2013.197	Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease
BCKDHB	p.R183P45	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
BCKDHB	p.G278S	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:73)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs12021720	9621512	1629	DBT	umls:C0024776	UNIPROT	Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.	0.574340269	1998	DBT	1	100206504	T	C
rs121964999	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100214929	A	C
rs137852870	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41424582	T	A
rs137852871	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422643	G	A,C
rs137852875	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422704	C	G
rs149766077	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168944	C	G,T
rs182923857	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41423038	C	T
rs185492864	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100214855	G	A
rs28934895	11509994	594	BCKDHB	umls:C0024776	UNIPROT	These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.	0.49298306	2001	NA	NA	NA	NA	NA
rs371518124	22326532	594	BCKDHB	umls:C0024776	BeFree	Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).	0.49298306	2012	BCKDHB	6	80168906	G	A,C
rs371518124	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168906	G	A,C
rs373713279	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422278	C	A
rs375785084	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422176	C	T
rs386834233	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80201023	G	A
rs386834233	17922217	594	BCKDHB	umls:C0024776	BeFree	Among the known mutant alleles, p.Gly278Ser in the BCKDHB gene was relatively frequent and also associated with a mild MSUD variant.	0.49298306	2007	BCKDHB	6	80201023	G	A
rs386834234	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80343739	G	T
rs398123486	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41423039	G	A
rs398123489	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41410645	C	-
rs398123490	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41424504	G	A
rs398123491	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41424572	C	A,T
rs398123492	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41424580	AC	-
rs398123493	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41424584	C	A
rs398123494	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA;EXOSC5	19	41397841	T	-
rs398123496	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41410817	G	A
rs398123497	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41410825	C	T
rs398123499	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41411004	C	T
rs398123503	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41419282	C	T
rs398123504	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422257	-	T
rs398123508	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422370	G	C
rs398123509	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422680	A	C
rs398123510	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422684	GT	-
rs398123512	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422692	T	-
rs398123513	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422739	C	T
rs398123515	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422754	G	A
rs398123660	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100196413	G	A
rs398123663	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100196257	A	G
rs398123665	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100235436	C	T
rs398123666	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100230891	ACTG	-
rs398123667	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100230821	ATCATAA	-
rs398123668	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100230806	T	-
rs398123669	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100249769	C	A
rs398123674	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100214985	T	C
rs398123675	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100214885	G	A
rs398123676	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100214817	C	G
rs398124561	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80273199	C	T
rs398124562	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80343671	G	A
rs398124571	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80129188	G	A
rs398124572	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80106726	AC	-
rs398124573	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80129228	T	G
rs398124574	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80167677	G	A
rs398124576	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168876	T	G
rs398124577	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168885	A	T
rs398124581	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168905	C	A,G,T
rs398124582	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168923	A	T
rs398124586	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168989	CA	-
rs398124587	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168992	AG	-
rs398124589	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80169031	G	A
rs398124592	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80200939	G	T
rs398124593	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80200943	T	C
rs398124594	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80200990	C	G,T
rs398124596	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80201033	T	G
rs398124598	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80203114	C	T
rs398124600	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80203163	T	G
rs398124601	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80106786	GGCGCGGGGCT	-
rs398124602	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80273134	G	A
rs398124603	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80273153	C	T
rs727503895	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100218751	GTAACAAGGTAA	-
rs74103423	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100216085	C	A
rs786204699	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80106796	-	GGCGCGGGGCT
rs794727262	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100240810	A	C
rs794727635	NA	1629	DBT	umls:C0024776	CLINVAR	NA	0.574340269	NA	DBT	1	100230732	C	A
rs794727847	NA	593	BCKDHA	umls:C0024776	CLINVAR	NA	0.490801593	NA	BCKDHA	19	41422636	AGGCCCCG	-
rs79761867	NA	594	BCKDHB	umls:C0024776	CLINVAR	NA	0.49298306	NA	BCKDHB	6	80168945	G	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0008872	Feeding difficulties in infancy	MP:0011075	abnormal macrophage activation involved in immune response	anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0003128	Lactic acidosis	MP:0003031	acidosis	a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b
HP:0008344	Elevated plasma branched chain amino acids	MP:0005311	abnormal circulating amino acid level	any anomaly in the amount in the blood of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group
HP:0001608	Abnormality of the voice	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0000600	Abnormality of the pharynx	MP:0010732	abnormal node of Ranvier morphology	any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon

Mapped by homologous gene(Total Items:23)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001259	Coma	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000600	Abnormality of the pharynx	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0004374	Hemiplegia/hemiparesis	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002093	Respiratory insufficiency	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003128	Lactic acidosis	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001943	Hypoglycemia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001276	Hypertonia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001608	Abnormality of the voice	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001254	Lethargy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0008872	Feeding difficulties in infancy	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001507	Growth abnormality	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0008344	Elevated plasma branched chain amino acids	MP:0011086	postnatal lethality, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)
HP:0001733	Pancreatitis	MP:0020134	abnormal gallbladder size	an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile
HP:0000738	Hallucinations	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002013	Vomiting	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001946	Ketosis	MP:0011110	preweaning lethality, incomplete penetrance	the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0002181	Cerebral edema	MP:0013294	prenatal lethality prior to heart atrial septation	death prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0001315	Reduced tendon reflexes	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	27
Disease	maple syrup urine disease
Case	(Waiting for update.)