Skip Navigation Bar
 

Unified Medical Language System® (UMLS®)

2012AB Online Mendelian Inheritance in Man Source Information

Counts

 (skip to: notes  samples)

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

  (return to top)
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

  (return to top)
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

  (return to top)
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

  (return to top)
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

  (return to top)
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

  (return to top)
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