Unified Medical Language System^® (UMLS^®)

2012AB Online Mendelian Inheritance in Man Source Information

Counts

Relationship	Relationship Attribute	Count (MRREL.RRF)
RO	has_manifestation	59535
RQ	has_alias	47468
PAR	*	32065
SY	expanded_form_of	28166
RO	has_allelic_variant	19190
RO	related_to	7636
RO	has_inheritance_type	2956

Notes

Sample data are taken from MRREL.RRF. Associated strings(str) from MRCONSO.RRF are also included

See relationships definitions below.
Every relationship has a separate row in MRREL.RRF.
Relationships are assigned based on source documentation or NLM understanding of the source.
Metathesaurus relationships in MRREL.RRF are read from right to left.
All relationships in MRREL.RRF are expressed in both directions, for example: 'has_ingredient/ingredient_of'. Inverse relationships in each pair are indicated on this page.
An asterisk (*) in the relationship attribute column indicates that no relationship attribute (RELA) was assigned.
Every even row (indicated by orange colored rel/rela pairs) indicates that the current row is an inverse relationship of the row above it.
See Section 2.4 of the UMLS Reference Manual for more information on Relationships in the UMLS Metathesaurus.

Relationship Definitions

AQ: allowed qualifier
CHD: has child (narrower hierarchical term)
DEL: deleted concept
PAR: has parent (broader hierarchical term)
QB: can be qualifier by
RB: has a broader relationship
RL: has similar or like relationship
RN: has narrower relationship
RO: has relationship other than synonymous, narrower or broader
RQ: related and possibly synonymous
SIB: has sibling
SY: source-asserted synonymy

Sample Data

RO

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CUI1	AUI1	STYPE1	STR	REL	RELA	STR	STYPE2	AUI2	CUI2
C1865012	A11966151	AUI	Highly variable phenotype	RO	has_manifestation	NEMALINE MYOPATHY 3	AUI	A11948052	C1834336
C1834336	A11948052	AUI	NEMALINE MYOPATHY 3	RO	manifestation_of	Highly variable phenotype	AUI	A11966151	C1865012
C1843667	A11953284	AUI	Narrow chest	RO	has_manifestation	MEIER-GORLIN SYNDROME 3	AUI	A19287493	C3151113
C3151113	A19287493	AUI	MEIER-GORLIN SYNDROME 3	RO	manifestation_of	Narrow chest	AUI	A11953284	C1843667
C0001807	A11951459	AUI	Aggressive behavior	RO	has_manifestation	CHROMOSOME 22q13.3 DELETION SYNDROME	AUI	A11997364	C1853490
C1853490	A11997364	AUI	CHROMOSOME 22q13.3 DELETION SYNDROME	RO	manifestation_of	Aggressive behavior	AUI	A11951459	C0001807
C0036439	A12008521	AUI	Scoliosis	RO	has_manifestation	WEAVER SYNDROME 1	AUI	A20278812	C0265210
C0265210	A20278812	AUI	WEAVER SYNDROME 1	RO	manifestation_of	Scoliosis	AUI	A12008521	C0036439
C0265535	A20273762	AUI	Trigonocephaly ICD10CM:Q75.0	RO	has_manifestation	TRIGONOCEPHALY 2	AUI	A20275152	C3280974
C3280974	A20275152	AUI	TRIGONOCEPHALY 2	RO	manifestation_of	Trigonocephaly ICD10CM:Q75.0	AUI	A20273762	C0265535
C3279728	A20274817	AUI	Progression to proximal muscle weakness	RO	has_manifestation	MYOPATHY, DISTAL, 4	AUI	A20277987	C3279722
C3279722	A20277987	AUI	MYOPATHY, DISTAL, 4	RO	manifestation_of	Progression to proximal muscle weakness	AUI	A20274817	C3279728
C0018818	A20276790	AUI	Ventricular septal defect ICD10CM:Q21.0 ICD9CM:745.4	RO	has_manifestation	JOHANSON-BLIZZARD SYNDROME	AUI	A11945897	C0175692
C0175692	A11945897	AUI	JOHANSON-BLIZZARD SYNDROME	RO	manifestation_of	Ventricular septal defect ICD10CM:Q21.0 ICD9CM:745.4	AUI	A20276790	C0018818
C1846845	A11939222	AUI	Early onset osteoarthritis	RO	has_manifestation	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	AUI	A11996767	C1846843
C1846843	A11996767	AUI	EPIPHYSEAL DYSPLASIA, MULTIPLE, 5	RO	manifestation_of	Early onset osteoarthritis	AUI	A11939222	C1846845
C0036439	A12008521	AUI	Scoliosis	RO	has_manifestation	OTOPALATODIGITAL SYNDROME, TYPE I	AUI	A12015524	C1839503
C1839503	A12015524	AUI	OTOPALATODIGITAL SYNDROME, TYPE I	RO	manifestation_of	Scoliosis	AUI	A12008521	C0036439
C0795690	A11970778	AUI	Omphalocele	RO	has_manifestation	FOCAL DERMAL HYPOPLASIA	AUI	A11973013	C0016395
C0016395	A11973013	AUI	FOCAL DERMAL HYPOPLASIA	RO	manifestation_of	Omphalocele	AUI	A11970778	C0795690
C1865329	A11985085	AUI	Cerebellar signs during episodes	RO	has_manifestation	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	AUI	A12028048	C1865322
C1865322	A12028048	AUI	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	RO	manifestation_of	Cerebellar signs during episodes	AUI	A11985085	C1865329
C1843703	A11924453	AUI	Dystrophic changes may be present	RO	has_manifestation	MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS	AUI	A11924452	C1843691
C1843691	A11924452	AUI	MINICORE MYOPATHY, ANTENATAL ONSET, WITH ARTHROGRYPOSIS	RO	manifestation_of	Dystrophic changes may be present	AUI	A11924453	C1843703
C1839556	A11972731	AUI	Abnormalities of the fingers (45%)	RO	has_manifestation	OROFACIODIGITAL SYNDROME I	AUI	A12001531	C1510460
C1510460	A12001531	AUI	OROFACIODIGITAL SYNDROME I	RO	manifestation_of	Abnormalities of the fingers (45%)	AUI	A11972731	C1839556
C1848702	A11973784	AUI	Elevated urinary delta-aminolevulinic acid	RO	has_manifestation	TYROSINEMIA, TYPE I	AUI	A11959552	C1414525
C1414525	A11959552	AUI	TYROSINEMIA, TYPE I	RO	manifestation_of	Elevated urinary delta-aminolevulinic acid	AUI	A11973784	C1848702
C0017601	A12012190	AUI	Glaucoma	RO	has_manifestation	MOMO SYNDROME	AUI	A12005614	C1834759
C1834759	A12005614	AUI	MOMO SYNDROME	RO	manifestation_of	Glaucoma	AUI	A12012190	C0017601
C1857408	A11960672	AUI	Incidence 1/100,000 - 1/200,000 live births	RO	has_manifestation	CYSTINOSIS, NEPHROPATHIC	AUI	A11931893	C0015624
C0015624	A11931893	AUI	CYSTINOSIS, NEPHROPATHIC	RO	manifestation_of	Incidence 1/100,000 - 1/200,000 live births	AUI	A11960672	C1857408
C1836019	A12023295	AUI	Distal amyotrophy	RO	has_manifestation	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	AUI	A12025830	C1853761
C1853761	A12025830	AUI	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	RO	manifestation_of	Distal amyotrophy	AUI	A12023295	C1836019
C1836183	A11995135	AUI	Hypoplastic uterus	RO	has_manifestation	HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME	AUI	A13288580	C0342286
C0342286	A13288580	AUI	HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, AND EXTRAPYRAMIDAL SYNDROME	RO	manifestation_of	Hypoplastic uterus	AUI	A11995135	C1836183
C0242422	A11951945	AUI	Parkinsonism	RO	has_manifestation	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	AUI	A13286386	C0018523
C0018523	A13286386	AUI	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1	RO	manifestation_of	Parkinsonism	AUI	A11951945	C0242422

RQ

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CUI1	AUI1	STYPE1	STR	REL	RELA	STR	STYPE2	AUI2	CUI2
C1424218	A16607684	AUI	NK2, DROSOPHILA, HOMOLOG OF, H	RQ	has_alias	NK2 HOMEOBOX 8	AUI	A16609603	C1424218
C1424218	A16609603	AUI	NK2 HOMEOBOX 8	RQ	alias_of	NK2, DROSOPHILA, HOMOLOG OF, H	AUI	A16607684	C1424218
C1423595	A17462694	AUI	KIAA1597	RQ	has_alias	SYNAPTOTAGMIN-LIKE 2	AUI	A17459108	C1423595
C1423595	A17459108	AUI	SYNAPTOTAGMIN-LIKE 2	RQ	alias_of	KIAA1597	AUI	A17462694	C1423595
C1823843	A17463969	AUI	WD REPEAT-CONTAINING PROTEIN 79	RQ	has_alias	WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53	AUI	A17462762	C1823843
C1823843	A17462762	AUI	WD REPEAT-CONTAINING PROTEIN ANTISENSE TO TP53	RQ	alias_of	WD REPEAT-CONTAINING PROTEIN 79	AUI	A17463969	C1823843
C1834690	A11948167	AUI	KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT	RQ	has_alias	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT	AUI	A19286206	C1834690
C1834690	A19286206	AUI	SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT	RQ	alias_of	KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT	AUI	A11948167	C1834690
C3149020	A19285253	AUI	GDF3, ARG266CYS	RQ	has_alias	KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT, ARG266CYS	AUI	A19291934	C3149020
C3149020	A19291934	AUI	KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT, ARG266CYS	RQ	alias_of	GDF3, ARG266CYS	AUI	A19285253	C3149020
C1868608	A19286240	AUI	PTH1R, ILE458ARG	RQ	has_alias	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ILE458ARG	AUI	A11947776	C1868608
C1868608	A11947776	AUI	METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ILE458ARG	RQ	alias_of	PTH1R, ILE458ARG	AUI	A19286240	C1868608
C1860896	A20268718	AUI	COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	RQ	has_alias	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	AUI	A20276586	C1860896
C1860896	A20276586	AUI	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	RQ	alias_of	COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6	AUI	A20268718	C1860896
C1857928	A12026421	AUI	TRIM37, 5-BP DEL, NT838	RQ	has_alias	MULIBREY NANISM, 5-BP DEL, NT838	AUI	A11940502	C1857928
C1857928	A11940502	AUI	MULIBREY NANISM, 5-BP DEL, NT838	RQ	alias_of	TRIM37, 5-BP DEL, NT838	AUI	A12026421	C1857928
C2931833	A11956952	AUI	HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT	RQ	has_alias	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	AUI	A11971229	C2931833
C2931833	A11971229	AUI	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	RQ	alias_of	HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT	AUI	A11956952	C2931833
C1421727	A12032590	AUI	KOX17	RQ	has_alias	ZINC FINGER PROTEIN 24	AUI	A12032589	C1421727
C1421727	A12032589	AUI	ZINC FINGER PROTEIN 24	RQ	alias_of	KOX17	AUI	A12032590	C1421727
C1862747	A12036268	AUI	PI, SER-19LEU	RQ	has_alias	PI Z(WREXHAM), SER-19LEU	AUI	A12021897	C1862747
C1862747	A12021897	AUI	PI Z(WREXHAM), SER-19LEU	RQ	alias_of	PI, SER-19LEU	AUI	A12036268	C1862747
C1842506	A11952869	AUI	MEFV, MET694VAL	RQ	has_alias	FAMILIAL MEDITERRANEAN FEVER, MET694VAL	AUI	A11924014	C1842506
C1842506	A11924014	AUI	FAMILIAL MEDITERRANEAN FEVER, MET694VAL	RQ	alias_of	MEFV, MET694VAL	AUI	A11952869	C1842506
C1835937	A11994835	AUI	TMEM67, IVS8, A-G, -2	RQ	has_alias	MECKEL SYNDROME, TYPE 3, IVS8, A-G, -2	AUI	A12023087	C1835937
C1835937	A12023087	AUI	MECKEL SYNDROME, TYPE 3, IVS8, A-G, -2	RQ	alias_of	TMEM67, IVS8, A-G, -2	AUI	A11994835	C1835937
C1865431	A12013674	AUI	CFTR, ASP110HIS	RQ	has_alias	CYSTIC FIBROSIS, ASP110HIS	AUI	A12028095	C1865431
C1865431	A12028095	AUI	CYSTIC FIBROSIS, ASP110HIS	RQ	alias_of	CFTR, ASP110HIS	AUI	A12013674	C1865431
C0406811	A11990417	AUI	KITAMURA RETICULATE ACROPIGMENTATION	RQ	has_alias	DOWLING-DEGOS DISEASE	AUI	A11947316	C0406811
C0406811	A11947316	AUI	DOWLING-DEGOS DISEASE	RQ	alias_of	KITAMURA RETICULATE ACROPIGMENTATION	AUI	A11990417	C0406811
C1851372	A12020885	AUI	F13A1, TYR283CYS	RQ	has_alias	FACTOR XIII, A SUBUNIT, DEFICIENCY OF, TYR283CYS	AUI	A12035281	C1851372
C1851372	A12035281	AUI	FACTOR XIII, A SUBUNIT, DEFICIENCY OF, TYR283CYS	RQ	alias_of	F13A1, TYR283CYS	AUI	A12020885	C1851372
C1836945	A11966559	AUI	KIAA1999	RQ	has_alias	RAPAMYCIN-INSENSITIVE COMPANION OF MTOR	AUI	A11923372	C1836945
C1836945	A11923372	AUI	RAPAMYCIN-INSENSITIVE COMPANION OF MTOR	RQ	alias_of	KIAA1999	AUI	A11966559	C1836945
C1845749	A11973377	AUI	DMD, ARG145TER	RQ	has_alias	DUCHENNE MUSCULAR DYSTROPHY, ARG145TER	AUI	A11959182	C1845749
C1845749	A11959182	AUI	DUCHENNE MUSCULAR DYSTROPHY, ARG145TER	RQ	alias_of	DMD, ARG145TER	AUI	A11973377	C1845749
C1413677	A12012566	AUI	CPN3	RQ	has_alias	COPINE III	AUI	A12026944	C1413677
C1413677	A12026944	AUI	COPINE III	RQ	alias_of	CPN3	AUI	A12012566	C1413677

PAR

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CUI1	AUI1	STYPE1	STR	REL	STR	STYPE2	AUI2	CUI2
C1845160	A12030469	AUI	Some patients can attend special school	PAR	MISCELLANEOUS	AUI	A11965534	C0205395
C0205395	A11965534	AUI	MISCELLANEOUS	CHD	Some patients can attend special school	AUI	A12030469	C1845160
C2750620	A17463528	AUI	Female mutation carriers have earlier age at onset compared to male mutation carriers	PAR	MISCELLANEOUS	AUI	A11965534	C0205395
C0205395	A11965534	AUI	MISCELLANEOUS	CHD	Female mutation carriers have earlier age at onset compared to male mutation carriers	AUI	A17463528	C2750620
C1855380	A19284724	AUI	Caused by mutation in the dihydrolipoamide branched chain transacylase gene (DBT, 248610.0001)	PAR	MOLECULAR BASIS	AUI	A12008495	C1853126
C1853126	A12008495	AUI	MOLECULAR BASIS	CHD	Caused by mutation in the dihydrolipoamide branched chain transacylase gene (DBT, 248610.0001)	AUI	A19284724	C1855380
C1861344	A19286293	AUI	Caused by mutation in the homolog of the mouse Noggin gene (NOG, 602991.0003)	PAR	MOLECULAR BASIS	AUI	A12008495	C1853126
C1853126	A12008495	AUI	MOLECULAR BASIS	CHD	Caused by mutation in the homolog of the mouse Noggin gene (NOG, 602991.0003)	AUI	A19286293	C1861344
C0013428	A20267555	AUI	Dysuria ICD10CM:R30.0 ICD9CM:788.1	PAR	Bladder	AUI	A11994943	C0005682
C0005682	A11994943	AUI	Bladder	CHD	Dysuria ICD10CM:R30.0 ICD9CM:788.1	AUI	A20267555	C0013428
C3277001	A20268185	AUI	Peripheral neuropathy (some patients)	PAR	Peripheral nervous system	AUI	A11965599	C0206417
C0206417	A11965599	AUI	Peripheral nervous system	CHD	Peripheral neuropathy (some patients)	AUI	A20268185	C3277001
C3280445	A20271912	AUI	Muscle atrophy, distal, particularly affecting the hands Muscle biopsy shows variation in fiber size	PAR	MUSCLE SOFT, TISSUE	AUI	A19289310	C3149620
C3149620	A19289310	AUI	MUSCLE SOFT, TISSUE	CHD	Muscle atrophy, distal, particularly affecting the hands Muscle biopsy shows variation in fiber size	AUI	A20271912	C3280445
C3276735	A20272227	AUI	Malformed first metatarsal	PAR	Feet	AUI	A11922444	C0016504
C0016504	A11922444	AUI	Feet	CHD	Malformed first metatarsal	AUI	A20272227	C3276735
C3278617	A20275626	AUI	Subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy	PAR	MUSCLE SOFT, TISSUE	AUI	A19289310	C3149620
C3149620	A19289310	AUI	MUSCLE SOFT, TISSUE	CHD	Subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy	AUI	A20275626	C3278617
C3278775	A20276253	AUI	Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, 173360.0001)	PAR	MOLECULAR BASIS	AUI	A12008495	C1853126
C1853126	A12008495	AUI	MOLECULAR BASIS	CHD	Caused by mutation in the serpin peptidase inhibitor, clade E, member 1 gene (SERPINE1, 173360.0001)	AUI	A20276253	C3278775
C0427055	A20278585	AUI	Facial paresis ICD10CM:R29.810 ICD9CM:438.83,781.94	PAR	Face	AUI	A11922447	C0015450
C0015450	A11922447	AUI	Face	CHD	Facial paresis ICD10CM:R29.810 ICD9CM:438.83,781.94	AUI	A20278585	C0427055
C1849634	A11974028	AUI	Plasma dihydrotestosterone (DHT) is decreased	PAR	ENDOCRINE FEATURES	AUI	A11965598	C1857702
C1857702	A11965598	AUI	ENDOCRINE FEATURES	CHD	Plasma dihydrotestosterone (DHT) is decreased	AUI	A11974028	C1849634
C1833729	A11979638	AUI	Scoliosis (23%)	PAR	Spine	AUI	A11951238	C0037949
C0037949	A11951238	AUI	Spine	CHD	Scoliosis (23%)	AUI	A11979638	C1833729
C1861530	A11964400	AUI	Hypoplastic iliac wing	PAR	Pelvis	AUI	A12008522	C0030797
C0030797	A12008522	AUI	Pelvis	CHD	Hypoplastic iliac wing	AUI	A11964400	C1861530
C1833777	A11990955	AUI	Occasional femoral bowing	PAR	Limbs	AUI	A11922433	C0015385
C0015385	A11922433	AUI	Limbs	CHD	Occasional femoral bowing	AUI	A11990955	C1833777
C1856766	A12003587	AUI	Delayed loss of primary teeth	PAR	Teeth	AUI	A11951240	C0040426
C0040426	A11951240	AUI	Teeth	CHD	Delayed loss of primary teeth	AUI	A12003587	C1856766
C0567041	A11935966	AUI	Small uterus	PAR	Internal genitalia, female	AUI	A11980516	C0227748
C0227748	A11980516	AUI	Internal genitalia, female	CHD	Small uterus	AUI	A11935966	C0567041
C1848658	A13290301	AUI	Poorly ossified calvaria	PAR	Skull	AUI	A11979859	C0037303
C0037303	A11979859	AUI	Skull	CHD	Poorly ossified calvaria	AUI	A13290301	C1848658
C1968785	A13288597	AUI	Individuals can stand or walk with support by 4 to 6 years of age	PAR	Central nervous system	AUI	A11979864	C0927232
C0927232	A11979864	AUI	Central nervous system	CHD	Individuals can stand or walk with support by 4 to 6 years of age	AUI	A13288597	C1968785

SY

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CUI1	AUI1	STYPE1	STR	REL	RELA	STR	STYPE2	AUI2	CUI2
C1864739	A16613065	AUI	PRAT4B	SY	expanded_form_of	PROTEIN ASSOCIATED WITH TLR4	AUI	A16616834	C1864739
C1864739	A16616834	AUI	PROTEIN ASSOCIATED WITH TLR4	SY	has_expanded_form	PRAT4B	AUI	A16613065	C1864739
C1425130	A16615136	AUI	TEM5	SY	expanded_form_of	TUMOR ENDOTHELIAL MARKER 5	AUI	A16613248	C1425130
C1425130	A16613248	AUI	TUMOR ENDOTHELIAL MARKER 5	SY	has_expanded_form	TEM5	AUI	A16615136	C1425130
C1422129	A17463666	AUI	LAPTM4B	SY	expanded_form_of	LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, BETA	AUI	A17466099	C1422129
C1422129	A17466099	AUI	LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, BETA	SY	has_expanded_form	LAPTM4B	AUI	A17463666	C1422129
C2266648	A19292509	AUI	DIP	SY	expanded_form_of	DEATH-INDUCING PROTEIN	AUI	A19295896	C2266648
C2266648	A19295896	AUI	DEATH-INDUCING PROTEIN	SY	has_expanded_form	DIP	AUI	A19292509	C2266648
C1537890	A20273071	AUI	MIR369-5p	SY	expanded_form_of	MICRO RNA 369-5p	AUI	A20274573	C1537890
C1537890	A20274573	AUI	MICRO RNA 369-5p	SY	has_expanded_form	MIR369-5p	AUI	A20273071	C1537890
C1427914	A11995309	AUI	ENT4	SY	expanded_form_of	EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 4	AUI	A12009363	C1427914
C1427914	A12009363	AUI	EQUILIBRATIVE NUCLEOSIDE TRANSPORTER 4	SY	has_expanded_form	ENT4	AUI	A11995309	C1427914
C1420644	A11956734	AUI	TCF7L2	SY	expanded_form_of	TRANSCRIPTION FACTOR 7-LIKE 2	AUI	A12013809	C1420644
C1420644	A12013809	AUI	TRANSCRIPTION FACTOR 7-LIKE 2	SY	has_expanded_form	TCF7L2	AUI	A11956734	C1420644
C1417964	A12036640	AUI	OPRL1	SY	expanded_form_of	OPIOID RECEPTOR-LIKE 1	AUI	A11999555	C1417964
C1417964	A11999555	AUI	OPIOID RECEPTOR-LIKE 1	SY	has_expanded_form	OPRL1	AUI	A12036640	C1417964
C1333717	A11972138	AUI	TF2A2	SY	expanded_form_of	TRANSCRIPTION FACTOR IIA, 2	AUI	A12029454	C1333717
C1333717	A12029454	AUI	TRANSCRIPTION FACTOR IIA, 2	SY	has_expanded_form	TF2A2	AUI	A11972138	C1333717
C1424158	A11997634	AUI	RFG7	SY	expanded_form_of	RET-FUSED GENE 7	AUI	A12011651	C1424158
C1424158	A12011651	AUI	RET-FUSED GENE 7	SY	has_expanded_form	RFG7	AUI	A11997634	C1424158
C1426003	A11953403	AUI	EBF3	SY	expanded_form_of	EARLY B-CELL FACTOR 3	AUI	A11996529	C1426003
C1426003	A11996529	AUI	EARLY B-CELL FACTOR 3	SY	has_expanded_form	EBF3	AUI	A11953403	C1426003
C1825750	A11927519	AUI	HA4	SY	expanded_form_of	KERATIN, HARD, TYPE I, 4	AUI	A11927518	C1825750
C1825750	A11927518	AUI	KERATIN, HARD, TYPE I, 4	SY	has_expanded_form	HA4	AUI	A11927519	C1825750
C1414639	A12006880	AUI	FLOT2	SY	expanded_form_of	FLOTILLIN 2	AUI	A11963860	C1414639
C1414639	A11963860	AUI	FLOTILLIN 2	SY	has_expanded_form	FLOT2	AUI	A12006880	C1414639
C1857855	A11980320	AUI	SPG29	SY	expanded_form_of	SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT	AUI	A11951732	C1857855
C1857855	A11951732	AUI	SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT	SY	has_expanded_form	SPG29	AUI	A11980320	C1857855
C1424630	A11953127	AUI	ICAT	SY	expanded_form_of	INHIBITOR OF BETA-CATENIN AND TCF4	AUI	A12024556	C1424630
C1424630	A12024556	AUI	INHIBITOR OF BETA-CATENIN AND TCF4	SY	has_expanded_form	ICAT	AUI	A11953127	C1424630
C1420661	A12004420	AUI	TCTE1	SY	expanded_form_of	T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1	AUI	A12032941	C1420661
C1420661	A12032941	AUI	T COMPLEX-ASSOCIATED TESTIS-EXPRESSED 1	SY	has_expanded_form	TCTE1	AUI	A12004420	C1420661
C1420081	A12014361	AUI	SKP1A	SY	expanded_form_of	S-PHASE KINASE-ASSOCIATED PROTEIN 1A	AUI	A12028836	C1420081
C1420081	A12028836	AUI	S-PHASE KINASE-ASSOCIATED PROTEIN 1A	SY	has_expanded_form	SKP1A	AUI	A12014361	C1420081
C1420847	A13286780	AUI	TNRC9	SY	expanded_form_of	TRINUCLEOTIDE REPEAT-CONTAINING 9	AUI	A13285673	C1420847
C1420847	A13285673	AUI	TRINUCLEOTIDE REPEAT-CONTAINING 9	SY	has_expanded_form	TNRC9	AUI	A13286780	C1420847
C1968832	A13289872	AUI	HCP1	SY	expanded_form_of	HEME CARRIER PROTEIN 1	AUI	A13289830	C1968832
C1968832	A13289830	AUI	HEME CARRIER PROTEIN 1	SY	has_expanded_form	HCP1	AUI	A13289872	C1968832

RO

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CUI1	AUI1	STYPE1	STR	REL	RELA	STR	STYPE2	AUI2	CUI2
C2676014	A16607537	AUI	MICROVILLUS INCLUSION DISEASE, ARG656CYS	RO	has_allelic_variant	MYOSIN VB	AUI	A12025489	C1417566
C1417566	A12025489	AUI	MYOSIN VB	RO	allelic_variant_of	MICROVILLUS INCLUSION DISEASE, ARG656CYS	AUI	A16607537	C2676014
C2675506	A16614399	AUI	CONTRACTURAL ARACHNODACTYLY, CONGENITAL, CYS1252TRP	RO	has_allelic_variant	FIBRILLIN 2	AUI	A16614397	C1414543
C1414543	A16614397	AUI	FIBRILLIN 2	RO	allelic_variant_of	CONTRACTURAL ARACHNODACTYLY, CONGENITAL, CYS1252TRP	AUI	A16614399	C2675506
C2676480	A16616363	AUI	PROTOPORPHYRIA, ERYTHROPOIETIC, IVS2, A-G, +11	RO	has_allelic_variant	FERROCHELATASE	AUI	A16610647	C1414580
C1414580	A16610647	AUI	FERROCHELATASE	RO	allelic_variant_of	PROTOPORPHYRIA, ERYTHROPOIETIC, IVS2, A-G, +11	AUI	A16616363	C2676480
C1832557	A17465558	AUI	HETEROTAXY, VISCERAL, 5, AUTOSOMAL, ARG183GLN	RO	has_allelic_variant	NODAL, MOUSE, HOMOLOG OF	AUI	A11971654	C1417752
C1417752	A11971654	AUI	NODAL, MOUSE, HOMOLOG OF	RO	allelic_variant_of	HETEROTAXY, VISCERAL, 5, AUTOSOMAL, ARG183GLN	AUI	A17465558	C1832557
C3151671	A19291507	AUI	CARDIAC VALVULAR DYSPLASIA, X-LINKED, 1,944-BP DEL	RO	has_allelic_variant	FILAMIN A	AUI	A12030989	C1414635
C1414635	A12030989	AUI	FILAMIN A	RO	allelic_variant_of	CARDIAC VALVULAR DYSPLASIA, X-LINKED, 1,944-BP DEL	AUI	A19291507	C3151671
C3151252	A19292612	AUI	FACTOR X DEFICIENCY, PRO343SER	RO	has_allelic_variant	COAGULATION FACTOR X	AUI	A19294303	C1414497
C1414497	A19294303	AUI	COAGULATION FACTOR X	RO	allelic_variant_of	FACTOR X DEFICIENCY, PRO343SER	AUI	A19292612	C3151252
C1847430	A19297031	AUI	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, IVS17DS, G-A, +1	RO	has_allelic_variant	PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE	AUI	A11968145	C1826644
C1826644	A11968145	AUI	PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE	RO	allelic_variant_of	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, IVS17DS, G-A, +1	AUI	A19297031	C1847430
C1847985	A11939704	AUI	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT, ARG415TRP	RO	has_allelic_variant	ATLASTIN GTPase 1	AUI	A20274407	C1420348
C1420348	A20274407	AUI	ATLASTIN GTPase 1	RO	allelic_variant_of	SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT, ARG415TRP	AUI	A11939704	C1847985
C1848031	A20272862	AUI	USHER SYNDROME, TYPE IIIA, TYR176TER	RO	has_allelic_variant	CLARIN 1	AUI	A19295308	C1824756
C1824756	A19295308	AUI	CLARIN 1	RO	allelic_variant_of	USHER SYNDROME, TYPE IIIA, TYR176TER	AUI	A20272862	C1848031
C3149761	A20272998	AUI	HYDATIDIFORM MOLE, RECURRENT, 1, PRO651SER	RO	has_allelic_variant	NLR FAMILY, PYRIN DOMAIN-CONTAINING 7	AUI	A16613079	C1427802
C1427802	A16613079	AUI	NLR FAMILY, PYRIN DOMAIN-CONTAINING 7	RO	allelic_variant_of	HYDATIDIFORM MOLE, RECURRENT, 1, PRO651SER	AUI	A20272998	C3149761
C1847222	A11968078	AUI	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1, IVS10, G-T, -1	RO	has_allelic_variant	INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4	AUI	A12025232	C1334137
C1334137	A12025232	AUI	INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4	RO	allelic_variant_of	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1, IVS10, G-T, -1	AUI	A11968078	C1847222
C1851187	A11992536	AUI	FIBRINOGEN BALTIMORE 1, GLY292VAL	RO	has_allelic_variant	FIBRINOGEN, G GAMMA POLYPEPTIDE	AUI	A11935039	C1414607
C1414607	A11935039	AUI	FIBRINOGEN, G GAMMA POLYPEPTIDE	RO	allelic_variant_of	FIBRINOGEN BALTIMORE 1, GLY292VAL	AUI	A11992536	C1851187
C1852141	A11935345	AUI	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, 1-BP DEL, 1430C	RO	has_allelic_variant	DESMOCOLLIN 2	AUI	A11964051	C1414157
C1414157	A11964051	AUI	DESMOCOLLIN 2	RO	allelic_variant_of	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, 1-BP DEL, 1430C	AUI	A11935345	C1852141
C1847928	A11954100	AUI	GAUCHER DISEASE, TYPE I, ASP140HIS AND GLU326LYS	RO	has_allelic_variant	GLUCOSIDASE, BETA, ACID	AUI	A12025540	C1414998
C1414998	A12025540	AUI	GLUCOSIDASE, BETA, ACID	RO	allelic_variant_of	GAUCHER DISEASE, TYPE I, ASP140HIS AND GLU326LYS	AUI	A11954100	C1847928
C1841757	A12006514	AUI	OSSEOUS HETEROPLASIA, PROGRESSIVE, 2-BP DEL, 860TG	RO	has_allelic_variant	GNAS COMPLEX LOCUS	AUI	A11934770	C1366550
C1366550	A11934770	AUI	GNAS COMPLEX LOCUS	RO	allelic_variant_of	OSSEOUS HETEROPLASIA, PROGRESSIVE, 2-BP DEL, 860TG	AUI	A12006514	C1841757
C1839895	A11929811	AUI	MASA SYNDROME, HIS210GLN	RO	has_allelic_variant	L1 CELL ADHESION MOLECULE	AUI	A12030092	C1416769
C1416769	A12030092	AUI	L1 CELL ADHESION MOLECULE	RO	allelic_variant_of	MASA SYNDROME, HIS210GLN	AUI	A11929811	C1839895
C1860814	A11961236	AUI	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLU145TER	RO	has_allelic_variant	TRIOSEPHOSPHATE ISOMERASE 1	AUI	A11932457	C1420871
C1420871	A11932457	AUI	TRIOSEPHOSPHATE ISOMERASE 1	RO	allelic_variant_of	TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLU145TER	AUI	A11961236	C1860814
C1840495	A12006118	AUI	BRACHYDACTYLY, TYPE E, SER308CYS	RO	has_allelic_variant	HOMEOBOX D13	AUI	A11934339	C1415687
C1415687	A11934339	AUI	HOMEOBOX D13	RO	allelic_variant_of	BRACHYDACTYLY, TYPE E, SER308CYS	AUI	A12006118	C1840495
C1970370	A13293968	AUI	DOUBLE-OUTLET RIGHT VENTRICLE, CYS267TYR	RO	has_allelic_variant	GROWTH/DIFFERENTIATION FACTOR 1	AUI	A11970539	C1415031
C1415031	A11970539	AUI	GROWTH/DIFFERENTIATION FACTOR 1	RO	allelic_variant_of	DOUBLE-OUTLET RIGHT VENTRICLE, CYS267TYR	AUI	A13293968	C1970370

RO

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CUI1	AUI1	STYPE1	STR	REL	RELA	STR	STYPE2	AUI2	CUI2
C2697361	A12000564	AUI	PETERS ANOMALY	RO	related_to	RIEGER ANOMALY, PHE112SER	AUI	A16619237	C1832806
C1832806	A16619237	AUI	RIEGER ANOMALY, PHE112SER	RO	related_to	PETERS ANOMALY	AUI	A12000564	C2697361
C3489398	A16612725	AUI	NEUROEPITHELIOMA, PERIPHERAL	RO	related_to	EWING SARCOMA	AUI	A16610764	C0553580
C0553580	A16610764	AUI	EWING SARCOMA	RO	related_to	NEUROEPITHELIOMA, PERIPHERAL	AUI	A16612725	C3489398
C2677290	A16619227	AUI	COLORECTAL CANCER, SUSCEPTIBILITY TO, 4	RO	related_to	POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	AUI	A11957395	C1832587
C1832587	A11957395	AUI	POLYPOSIS SYNDROME, HEREDITARY MIXED, 1	RO	related_to	COLORECTAL CANCER, SUSCEPTIBILITY TO, 4	AUI	A16619227	C2677290
C2750609	A17465957	AUI	INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC	RO	related_to	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN, ARG151CYS	AUI	A16606543	C1835052
C1835052	A16606543	AUI	SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN, ARG151CYS	RO	related_to	INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC	AUI	A17465957	C2750609
C2748662	A17467973	AUI	MITCHELL-RILEY SYNDROME	RO	related_to	PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA, WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA	AUI	A17463132	C1832443
C1832443	A17463132	AUI	PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA, WITH OR WITHOUT TRACHEOESOPHAGEAL FISTULA	RO	related_to	MITCHELL-RILEY SYNDROME	AUI	A17467973	C2748662
C2750011	A17459806	AUI	PREMATURE OVARIAN FAILURE 7	RO	related_to	46,XY SEX REVERSAL 3, 1-BP DEL, 666C	AUI	A19293004	C2750010
C2750010	A19293004	AUI	46,XY SEX REVERSAL 3, 1-BP DEL, 666C	RO	related_to	PREMATURE OVARIAN FAILURE 7	AUI	A17459806	C2750011
C3278146	A20267657	AUI	GALACTOSEMIA, DUARTE VARIANT	RO	related_to	GALACTOSEMIA	AUI	A12003541	C0268151
C0268151	A12003541	AUI	GALACTOSEMIA	RO	related_to	GALACTOSEMIA, DUARTE VARIANT	AUI	A20267657	C3278146
C2720229	A11929031	AUI	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	RO	related_to	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, TYR628SER	AUI	A11957800	C1833513
C1833513	A11957800	AUI	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE, TYR628SER	RO	related_to	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	AUI	A11929031	C2720229
C1283400	A11961763	AUI	BUTYRYLCHOLINESTERASE DEFICIENCY	RO	related_to	BUTYRYLCHOLINESTERASE	AUI	A12018875	C1412756
C1412756	A12018875	AUI	BUTYRYLCHOLINESTERASE	RO	related_to	BUTYRYLCHOLINESTERASE DEFICIENCY	AUI	A11961763	C1283400
C2697417	A11923728	AUI	PHEOCHROMOCYTOMA	RO	related_to	VON HIPPEL-LINDAU SYNDROME, ARG167TRP	AUI	A11923727	C1837905
C1837905	A11923727	AUI	VON HIPPEL-LINDAU SYNDROME, ARG167TRP	RO	related_to	PHEOCHROMOCYTOMA	AUI	A11923728	C2697417
C1841972	A11934901	AUI	CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT	RO	related_to	GLUCOCORTICOID RECEPTOR	AUI	A12020718	C1334899
C1334899	A12020718	AUI	GLUCOCORTICOID RECEPTOR	RO	related_to	CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT	AUI	A11934901	C1841972
C1424302	A12025095	AUI	SUFUXL	RO	related_to	SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF	AUI	A12025094	C1424302
C1424302	A12025094	AUI	SUPPRESSOR OF FUSED, DROSOPHILA, HOMOLOG OF	RO	related_to	SUFUXL	AUI	A12025095	C1424302
C1860786	A12004258	AUI	DOWN SYNDROME CHROMOSOME REGION	RO	related_to	DOWN SYNDROME	AUI	A11932451	C0013080
C0013080	A11932451	AUI	DOWN SYNDROME	RO	related_to	DOWN SYNDROME CHROMOSOME REGION	AUI	A12004258	C1860786
C1862557	A12007735	AUI	DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d	RO	related_to	APOLIPOPROTEIN E	AUI	A11979015	C1412481
C1412481	A11979015	AUI	APOLIPOPROTEIN E	RO	related_to	DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d	AUI	A12007735	C1862557
C2720277	A11969599	AUI	BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO	RO	related_to	CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF	AUI	A11926515	C1424448
C1424448	A11926515	AUI	CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF	RO	related_to	BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO	AUI	A11969599	C2720277
C1850555	A12003010	AUI	DE LA CHAPELLE DYSPLASIA	RO	related_to	ATELOSTEOGENESIS, TYPE II	AUI	A12017036	C1850554
C1850554	A12017036	AUI	ATELOSTEOGENESIS, TYPE II	RO	related_to	DE LA CHAPELLE DYSPLASIA	AUI	A12003010	C1850555
C1622669	A11964235	AUI	PLATELET BASIC PROTEIN	RO	related_to	PRO-PLATELET BASIC PROTEIN	AUI	A12021314	C1335239
C1335239	A12021314	AUI	PRO-PLATELET BASIC PROTEIN	RO	related_to	PLATELET BASIC PROTEIN	AUI	A11964235	C1622669
C1418773	A13293841	AUI	PPAN/P2RY11 SPLICED READ-THROUGH TRANSCRIPT	RO	related_to	PETER PAN, DROSOPHILA, HOMOLOG OF	AUI	A11924274	C1418773
C1418773	A11924274	AUI	PETER PAN, DROSOPHILA, HOMOLOG OF	RO	related_to	PPAN/P2RY11 SPLICED READ-THROUGH TRANSCRIPT	AUI	A13293841	C1418773
C1969389	A13294273	AUI	NONSMALL CELL LUNG CANCER, SOMATIC	RO	related_to	BREAST CANCER, SOMATIC, GLU545LYS	AUI	A11990792	C1868360
C1868360	A11990792	AUI	BREAST CANCER, SOMATIC, GLU545LYS	RO	related_to	NONSMALL CELL LUNG CANCER, SOMATIC	AUI	A13294273	C1969389

RO

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CUI1	AUI1	STYPE1	STR	REL	RELA	STR	STYPE2	AUI2	CUI2
C1853237	A11922672	AUI	Isolated cases	RO	has_inheritance_type	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA	AUI	A11989393	C1857451
C1857451	A11989393	AUI	ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA	RO	inheritance_type_of	Isolated cases	AUI	A11922672	C1853237
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	PREECLAMPSIA/ECLAMPSIA 1	AUI	A12018422	C0032914
C0032914	A12018422	AUI	PREECLAMPSIA/ECLAMPSIA 1	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3	AUI	A16615014	C1836892
C1836892	A16615014	AUI	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	AMELOGENESIS IMPERFECTA, TYPE III	AUI	A16619919	C0399376
C0399376	A16619919	AUI	AMELOGENESIS IMPERFECTA, TYPE III	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7	AUI	A17460645	C2751729
C2751729	A17460645	AUI	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	CARDIOMYOPATHY, DILATED, 1C	AUI	A11957229	C1832244
C1832244	A11957229	AUI	CARDIOMYOPATHY, DILATED, 1C	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C1853237	A11922672	AUI	Isolated cases	RO	has_inheritance_type	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS	AUI	A17459026	C0406612
C0406612	A17459026	AUI	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS	RO	inheritance_type_of	Isolated cases	AUI	A11922672	C1853237
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	ACETYL-CoA CARBOXYLASE DEFICIENCY	AUI	A19285976	C0268603
C0268603	A19285976	AUI	ACETYL-CoA CARBOXYLASE DEFICIENCY	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	RETINITIS PIGMENTOSA 4	AUI	A19292529	C3151001
C3151001	A19292529	AUI	RETINITIS PIGMENTOSA 4	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME	AUI	A20278213	C3280692
C3280692	A20278213	AUI	MICROCEPHALY, CEREBELLAR HYPOPLASIA, AND CARDIAC CONDUCTION DEFECT SYNDROME	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	BARBER-SAY SYNDROME	AUI	A11960867	C1319466
C1319466	A11960867	AUI	BARBER-SAY SYNDROME	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	HYPOSPADIAS 3, AUTOSOMAL	AUI	A16614138	C2675154
C2675154	A16614138	AUI	HYPOSPADIAS 3, AUTOSOMAL	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2	AUI	A20268764	C3280672
C3280672	A20268764	AUI	PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	PYRUVATE DEHYDROGENASE E2 DEFICIENCY	AUI	A11960264	C1855565
C1855565	A11960264	AUI	PYRUVATE DEHYDROGENASE E2 DEFICIENCY	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C1853237	A11922672	AUI	Isolated cases	RO	has_inheritance_type	CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS	AUI	A11953863	C1847387
C1847387	A11953863	AUI	CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS	RO	inheritance_type_of	Isolated cases	AUI	A11922672	C1853237
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	MANITOBA OCULOTRICHOANAL SYNDROME	AUI	A12031791	C1855425
C1855425	A12031791	AUI	MANITOBA OCULOTRICHOANAL SYNDROME	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C0441748	A11979835	AUI	Autosomal recessive	RO	has_inheritance_type	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	AUI	A11974955	C0268626
C0268626	A11974955	AUI	CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE	RO	inheritance_type_of	Autosomal recessive	AUI	A11979835	C0441748
C0443147	A11994405	AUI	Autosomal dominant	RO	has_inheritance_type	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	AUI	A11997091	C1847650
C1847650	A11997091	AUI	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES	RO	inheritance_type_of	Autosomal dominant	AUI	A11994405	C0443147
C1853237	A11922672	AUI	Isolated cases	RO	has_inheritance_type	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC	AUI	A11967464	C0206141
C0206141	A11967464	AUI	HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC	RO	inheritance_type_of	Isolated cases	AUI	A11922672	C1853237

Unified Medical Language System® (UMLS®)

2012AB Online Mendelian Inheritance in Man Source Information

Counts

Notes

Relationship Definitions

Sample Data

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RO

Unified Medical Language System^® (UMLS^®)