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	biotinidase deficiency

Disease ID	1
Disease	biotinidase deficiency
Definition	A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
Synonym	biotinidase defic biotinidase deficiencies biotinidase deficiency (disorder) biotinidase deficiency [disease/finding] btd deficiencies btd deficiency carboxylase defic multiple late onset carboxylase deficiency, multiple, late-onset defic biotinidase defic multiple carboxylase late onset deficiencies, biotinidase deficiencies, btd deficiency of biotinidase deficiency of biotinidase (disorder) deficiency, biotinidase deficiency, btd deficiency, multiple carboxylase, late-onset late onset biotin responsive multiple carboxylase deficiency late onset multiple carboxylase deficiency late-onset biotin-responsive multiple carboxylase deficiency late-onset multiple carboxylase deficiency multiple carboxylase defic late onset multiple carboxylase deficiency - late onset multiple carboxylase deficiency, late onset multiple carboxylase deficiency, late-onset
Orphanet	ORPHANET:79241
OMIM	OMIM:253260
DOID	DOID:856
ICD10	ICD10CM:D81.810
UMLS	C0220754
MeSH	D028921
SNOMED-CT	SNOMEDCT_US_2016_09_01:8808004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0027813 \| neuritis \| 1 C0014544 \| epilepsy \| 1 C0029124 \| optic atrophy \| 1 C0029132 \| optic neuropathy \| 1 C0026755 \| multiple carboxylase deficiency \| 1 C0442874 \| neuropathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 686 \| BTD \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 686 \| BTD \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:15) 95 \| ACY1 \| 3.374 \| DISEASES 538 \| ATP7A \| 1.518 \| DISEASES 875 \| CBS \| 1.446 \| DISEASES 1056 \| CEL \| 2.847 \| DISEASES 8890 \| EIF2B4 \| 3.892 \| DISEASES 2170 \| FABP3 \| 1.726 \| DISEASES 3033 \| HADH \| 2.428 \| DISEASES 3141 \| HLCS \| 5.93 \| DISEASES 3712 \| IVD \| 1.9 \| DISEASES 3980 \| LIG3 \| 3.015 \| DISEASES 64087 \| MCCC2 \| 3.815 \| DISEASES 219541 \| MED19 \| 3.166 \| DISEASES 5091 \| PC \| 3.319 \| DISEASES 5096 \| PCCB \| 2.924 \| DISEASES 7311 \| UBA52 \| 2.837 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) BTD \| 3p25.1

Disease ID	1
Disease	biotinidase deficiency
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:23) HP:0001317 \| Abnormality of the cerebellum HP:0001263 \| Global developmental delay HP:0000545 \| Myopia HP:0000365 \| Hearing impairment HP:0002883 \| Hyperventilation HP:0001251 \| Ataxia HP:0001254 \| Lethargy HP:0007730 \| Iris hypopigmentation HP:0006511 \| Laryngeal stridor HP:0001276 \| Hypertonia HP:0005979 \| Metabolic ketoacidosis HP:0001510 \| Growth delay HP:0011127 \| Perioral eczema HP:0001259 \| Coma HP:0000648 \| Optic atrophy HP:0001096 \| Keratoconjunctivitis HP:0001596 \| Alopecia HP:0001123 \| Visual field defect HP:0001324 \| Muscle weakness HP:0002841 \| Recurrent fungal infections HP:0001252 \| Muscular hypotonia HP:0002123 \| Generalized myoclonic seizures HP:0002104 \| Apnea
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0001250 \| Seizures \| 2 HP:0001298 \| Encephalopathy \| 2 HP:0200134 \| Epileptic encephalopathy \| 1 HP:0040078 \| Axonal degeneration \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0002232 \| Patchy alopecia \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0001596 \| Hair loss \| 1 HP:0001285 \| Spastic tetraparesis \| 1 HP:0001138 \| Damaged optic nerve \| 1

Disease ID	1
Disease	biotinidase deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C2029884 \| hearing loss C0270984 \| metabolic myopathy C0235031 \| neurologic symptoms C0221163 \| motor disorders C0036572 \| seizures C0029132 \| optic neuropathy C0026848 \| myopathy C0026755 \| multiple carboxylase deficiency
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0026755 \| multiple carboxylase deficiency \| 1 C0029132 \| optic neuropathy \| 1 C0036572 \| seizures \| 1

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
BTD	c.98_104delinsTCC (G98del3ins), c.511G>A; c.1330G>C, c.1368A>C, c.1612C>T, c.1330G>C	doi:10.1038/gim.2011.6	Biotinidase deficiency: “if you have to have an inherited metabolic disease, this is the one to have”

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

All Snps(Total Genotypes:159)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893686	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645063	T	G
rs104893687	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635614	C	T
rs104893688	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645451	C	T
rs104893688	9654207	686	BTD	umls:C0220754	UNIPROT	Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.	0.574611711	1998	BTD	3	15645451	C	T
rs104893692	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645322	A	C
rs112195009	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644488	G	A
rs119103232	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635479	G	A
rs13073139	10206677	686	BTD	umls:C0220754	UNIPROT	We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascertained by newborn screening.	0.574611711	1998	BTD	3	15644367	G	A
rs13073139	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644367	G	A
rs13078881	10206677	686	BTD	umls:C0220754	UNIPROT	We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascertained by newborn screening.	0.574611711	1998	BTD	3	15645186	G	C
rs13078881	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645186	G	C
rs138818907	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645345	C	T
rs146011150	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635507	A	G
rs146015592	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644326	G	A
rs146136265	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645485	C	A
rs146600671	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645225	G	A
rs151071780	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635641	C	G,T
rs181396238	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645288	G	A,C
rs190386869	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644499	C	G,T
rs200327983	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644902	A	C
rs200337373	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644520	G	A,C
rs201023772	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645061	A	G
rs201604102	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645311	C	G
rs28934601	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644611	A	G
rs34885143	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635512	G	A
rs35034250	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645027	C	T
rs35145938	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645140	C	A,T
rs35976361	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644736	A	G
rs367902696	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642041	G	A
rs372844636	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644487	C	T
rs374141881	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645093	G	A
rs374681173	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642052	A	C,G
rs375712490	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641939	G	T
rs377651057	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644791	G	A
rs397507170	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635563	G	A,T
rs397507171	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635624	C	A,T
rs397507172	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641924	T	G
rs397507173	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644415	C	T
rs397507174	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644485	A	G
rs397507175	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644590	G	A
rs397507176	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644824	A	G
rs397514333	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635591	T	C
rs397514334	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644721	G	C
rs397514335	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645127	G	A,C
rs397514336	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635515	G	T
rs397514337	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635538	C	A,T
rs397514338	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635539	G	A,T
rs397514339	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635550	T	G
rs397514340	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635569	G	A
rs397514341	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635573	A	G
rs397514343	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635615	G	A
rs397514345	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645217	A	C,G
rs397514346	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635625	CTTGGAGCT	-
rs397514347	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635627	T	C
rs397514348	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635657	A	G
rs397514349	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635662	C	T
rs397514350	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635677	G	A
rs397514351	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641908	G	T
rs397514352	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641932	G	A,C
rs397514353	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641954	A	G
rs397514354	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641962	A	G
rs397514355	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641980	T	G
rs397514356	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641991	C	-
rs397514357	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642022	C	A
rs397514359	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642043	T	C
rs397514360	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642057	G	A
rs397514362	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644322	C	T
rs397514363	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644325	C	T
rs397514364	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644341	C	T
rs397514365	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644346	AG	-
rs397514366	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644371	A	G
rs397514367	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644384	G	T
rs397514368	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644400	A	-
rs397514369	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644413	G	A
rs397514370	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644439	A	G
rs397514371	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644440	A	G
rs397514372	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644443	C	G
rs397514373	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644450	CGT	-
rs397514374	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644450	C	-
rs397514375	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644451	G	A
rs397514376	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644461	A	G,T
rs397514377	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644497	A	G
rs397514378	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644508	G	C
rs397514379	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644510	G	A,C
rs397514380	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644538	G	T
rs397514381	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644565	G	A
rs397514382	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644599	T	C
rs397514383	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644613	C	T
rs397514384	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644620	T	C
rs397514385	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644650	A	T
rs397514386	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644789	T	G
rs397514387	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644670	T	G
rs397514388	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644688	C	G
rs397514389	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644689	T	C
rs397514390	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644692	T	G
rs397514391	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644743	T	G
rs397514392	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644752	C	T
rs397514393	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644785	G	A
rs397514394	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644788	G	A
rs397514395	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644789	T	-
rs397514396	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644790	G	A
rs397514397	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644905	C	-
rs397514398	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644908	C	-
rs397514399	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644952	T	C
rs397514400	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644962	C	T
rs397514401	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645013	G	A
rs397514402	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645190	G	T
rs397514403	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645047	GA	-
rs397514404	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645095	CTATCTCCACGT	-
rs397514405	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645067	C	T
rs397514406	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645070	T	C
rs397514407	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645095	C	-
rs397514408	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645108	T	C
rs397514409	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645105	G	T
rs397514410	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645109	G	C
rs397514411	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645120	-	C
rs397514412	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645123	T	C
rs397514413	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645124	G	C
rs397514414	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645131	T	G
rs397514415	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645169	A	G
rs397514416	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645170	T	A
rs397514417	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645189	G	A
rs397514418	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645195	C	T
rs397514419	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645208	G	A
rs397514420	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645240	A	-
rs397514421	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645244	G	A
rs397514422	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645315	T	C
rs397514423	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645315	T	-
rs397514424	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645319	G	A
rs397514425	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645349	-	T
rs397514426	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645367	T	A
rs397514427	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645387	C	G
rs397514428	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645466	G	A
rs397514429	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645469	G	A
rs397514430	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645472	-	T
rs397514431	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645475	A	G
rs397514432	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645483	G	C
rs397514433	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644857	T	A
rs397514434	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645014	G	A
rs397514436	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635571	G	C
rs397514437	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644374	T	G
rs397514438	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644614	C	T
rs397514439	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642005	-	A
rs397514440	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645250	-	G
rs398123138	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645364	GGATG	-
rs398123139	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644482	G	A
rs587783002	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635636	T	G
rs587783003	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15642053	C	G,T
rs587783004	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644539	A	G
rs587783005	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644557	C	T
rs587783006	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15644754	A	C
rs587783007	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645228	-	T
rs587783008	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15641893	T	-
rs672601248	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645083	GGGAAAGGAAGGCTA	NNNNNNNNNNN,TTCCAATGGCC
rs786204672	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635584	-	ATCC
rs80338684	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15635477	GCGGCTG	TCC
rs80338685	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645224	A	C
rs80338685	9654207	686	BTD	umls:C0220754	UNIPROT	Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.	0.574611711	1998	BTD	3	15645224	A	C
rs80338686	NA	686	BTD	umls:C0220754	CLINVAR	NA	0.574611711	NA	BTD	3	15645468	C	A,T

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:0002123	Generalized myoclonic seizures	MP:0009358	environmentally induced seizures	seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0000648	Optic atrophy	MP:0012506	brain atrophy	acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0001324	Muscle weakness	MP:0000746	weakness	state of being infirm or less strong than normal
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:0007730	Iris hypopigmentation	MP:0005408	hypopigmentation	dilution of pigment in any or all tissues or a part of a tissue
HP:0001123	Visual field defect	MP:0010402	ventricular septal defect	abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions

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:0006511	Laryngeal stridor	MP:0012460	decreased dentate gyrus size	reduced size of one of two interlocking gyri of the hippocampus formation that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus
HP:0002123	Generalized myoclonic seizures	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: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:0001096	Keratoconjunctivitis	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0007730	Iris hypopigmentation	MP:0014164	abnormal ciliary process morphology	any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0002883	Hyperventilation	MP:0014178	increased brain apoptosis	increase in the number of cells of the brain undergoing programmed cell death
HP:0005979	Metabolic ketoacidosis	MP:0011088	neonatal 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 within the neonatal period after birth (Mus: P0)
HP:0001510	Growth delay	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0001123	Visual field defect	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0001324	Muscle weakness	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001317	Abnormality of the cerebellum	MP:0011971	increased circulating lactate dehydrogenase level	elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of ca
HP:0011127	Perioral eczema	MP:0013799	abnormal intestinal goblet cell physiology	any functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a
HP:0002104	Apnea	MP:0020187	altered susceptibility to prion infection	altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
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:0001276	Hypertonia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002841	Recurrent fungal infections	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001254	Lethargy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000365	Hearing impairment	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
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:0000545	Myopia	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000648	Optic atrophy	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:0001596	Alopecia	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye

Disease ID	1
Disease	biotinidase deficiency
Case	(Waiting for update.)