Skip to content

Migrate doid

DOID

Interactive FlatGithub table

Migratable terms

mondo_id mondo_label xref xref_source original_label definition parents
ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT= A IAO:0000115
MONDO:0958281 mitochondrial complex v (atp synthase) deficiency nuclear type 4 DOID:0060333 MONDO:equivalentTo mitochondrial complex V (ATP synthase) deficiency nuclear type 4 MONDO:0014471
MONDO:0958318 chronic inflammatory demyelinating polyneuritis DOID:2536 MONDO:equivalentTo chronic inflammatory demyelinating polyneuritis MONDO:0002336
MONDO:0958319 congenital kyphosis DOID:4668 MONDO:equivalentTo congenital kyphosis
MONDO:0958320 postural kyphosis DOID:9373 MONDO:equivalentTo postural kyphosis
MONDO:0958359 childhood spinal muscular atrophy DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy MONDO:0001516
MONDO:0958360 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency MONDO:0002525
MONDO:0968993 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease MONDO:0005108
MONDO:0968994 borna disease DOID:5154 MONDO:equivalentTo borna disease MONDO:0005108,MONDO:0002602
MONDO:0970991 papilledema DOID:146 MONDO:equivalentTo papilledema MONDO:0002135
MONDO:0971183 autosomal recessive pseudohypoaldosteronism type 1 DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 MONDO:0018638,MONDO:0006025
MONDO:0975707 idiopathic pulmonary fibrosis DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. MONDO:0002771,MONDO:0000426
MONDO:0975708 dialysis disequilibrium syndrome DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome MONDO:0002254
MONDO:0975763 digenic dyskeratosis congenita DOID:0060984 MONDO:equivalentTo digenic dyskeratosis congenita MONDO:0015780
MONDO:0975764 preaxial polydactyly type iv DOID:0060985 MONDO:equivalentTo preaxial polydactyly type IV MONDO:0021003,MONDO:0000426
MONDO:0975765 preaxial polydactyly ii DOID:0060986 MONDO:equivalentTo preaxial polydactyly II MONDO:0000426,MONDO:0021003
MONDO:0975766 preaxial polydactyly i DOID:0060987 MONDO:equivalentTo preaxial polydactyly I MONDO:0021003,MONDO:0006025
MONDO:0975767 pancreatic agenesis 2 DOID:0060988 MONDO:equivalentTo pancreatic agenesis 2 MONDO:0009832,MONDO:0006025
MONDO:0975768 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID:0060989 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0002254,MONDO:0000426
MONDO:0975769 congenital disorder of deglycosylation DOID:0060991 MONDO:equivalentTo congenital disorder of deglycosylation A carbohydrate metabolic disorder that is charactized mutations resulting in malfunction impacting the addition of glycans to proteins. MONDO:0019214
MONDO:0975770 bent bone dysplasia syndrome 1 DOID:0060992 MONDO:equivalentTo bent bone dysplasia syndrome 1 MONDO:0000833,MONDO:0000426
MONDO:0975771 bent bone dysplasia syndrome 2 DOID:0060993 MONDO:equivalentTo bent bone dysplasia syndrome 2 MONDO:0000833,MONDO:0006025
MONDO:0975772 encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID:0060994 MONDO:equivalentTo encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:0002254,MONDO:0006025
MONDO:0975773 intellectual disability and myopathy syndrome DOID:0070600 MONDO:equivalentTo intellectual disability and myopathy syndrome MONDO:0002254
MONDO:0975774 autosomal dominant nonsyndromic deafness 37 DOID:0070601 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 37 MONDO:0019587
MONDO:0975775 autosomal dominant nonsyndromic deafness 80 DOID:0070602 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 80 MONDO:0019587
MONDO:0975776 autosomal dominant nonsyndromic deafness 82 DOID:0070603 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 82 MONDO:0019587
MONDO:0975777 autosomal dominant nonsyndromic deafness 84 DOID:0070604 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 84 MONDO:0019587
MONDO:0975778 autosomal dominant nonsyndromic deafness 85 DOID:0070605 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 85 MONDO:0019587
MONDO:0975779 autosomal dominant nonsyndromic deafness 87 DOID:0070606 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 87 MONDO:0019587
MONDO:0975780 autosomal dominant nonsyndromic deafness 90 DOID:0070607 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 90 MONDO:0019587
MONDO:0975781 autosomal dominant nonsyndromic deafness 81 DOID:0070608 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 81 MONDO:0019587
MONDO:0975782 autosomal dominant nonsyndromic deafness 83 DOID:0070609 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 83 MONDO:0019587
MONDO:0975783 autosomal dominant nonsyndromic deafness 86 DOID:0070610 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 86 MONDO:0019587
MONDO:0975784 autosomal dominant nonsyndromic deafness 88 DOID:0070611 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 88 MONDO:0019587
MONDO:0975785 autosomal dominant nonsyndromic deafness 89 DOID:0070612 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 89 MONDO:0019587
MONDO:0975786 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria MONDO:0000426,MONDO:0009297,MONDO:0006025
MONDO:0975787 chromosome 11 partial duplication syndrome DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome MONDO:0000762
MONDO:0975812 sertoli cell-only syndrome DOID:0050457 MONDO:equivalentTo Sertoli cell-only syndrome MONDO:0005372
MONDO:0975813 autosomal dominant isolated macrothrombocytopenia 2 DOID:0060995 MONDO:equivalentTo autosomal dominant isolated macrothrombocytopenia 2 MONDO:0002049,MONDO:0000426
MONDO:0975814 poor metabolism of thiopurines 2 DOID:0060996 MONDO:equivalentTo poor metabolism of thiopurines 2 MONDO:0012503,MONDO:0000426
MONDO:0975815 striatal degeneration 2 DOID:0060998 MONDO:equivalentTo striatal degeneration 2 MONDO:0007803,MONDO:0000426
MONDO:0975816 mitochondrial trifunctional protein deficiency 2 DOID:0060999 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 2 MONDO:0012172
MONDO:0975817 glycine encephalopathy 2 DOID:0061001 MONDO:equivalentTo glycine encephalopathy 2 MONDO:0011612
MONDO:0975818 congenital amegakaryocytic thrombocytopenia 2 DOID:0061002 MONDO:equivalentTo congenital amegakaryocytic thrombocytopenia 2 MONDO:0800452
MONDO:0975819 pancreatic agenesis 1 DOID:0061003 MONDO:equivalentTo pancreatic agenesis 1 MONDO:0009832,MONDO:0006025
MONDO:0975820 poor metabolism of thiopurines 1 DOID:0061004 MONDO:equivalentTo poor metabolism of thiopurines 1 MONDO:0012503
MONDO:0975821 autoinflammation, antibody deficiency, and immune dysregulation syndrome DOID:0070615 MONDO:equivalentTo autoinflammation, antibody deficiency, and immune dysregulation syndrome MONDO:0003778,MONDO:0000426
MONDO:0975822 glycine encephalopathy 1 DOID:0070616 MONDO:equivalentTo glycine encephalopathy 1 MONDO:0011612
MONDO:0975823 rhabdoid tumor predisposition syndrome DOID:0070617 MONDO:equivalentTo rhabdoid tumor predisposition syndrome MONDO:0002254,MONDO:0000426
MONDO:0975824 mitochondrial trifunctional protein deficiency 1 DOID:0070619 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 1 MONDO:0012172
MONDO:0975850 autoinflammatory disease DOID:0051000 MONDO:equivalentTo autoinflammatory disease A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation. MONDO:0003778
MONDO:0975851 congenital amegakaryocytic thrombocytopenia 1 DOID:0061005 MONDO:equivalentTo congenital amegakaryocytic thrombocytopenia 1 MONDO:0800452
MONDO:0975852 advanced sleep phase syndrome 4 DOID:0061006 MONDO:equivalentTo advanced sleep phase syndrome 4 MONDO:0015609
MONDO:0975853 sideroblastic anemia 5 DOID:0061007 MONDO:equivalentTo sideroblastic anemia 5 MONDO:0015194,MONDO:0006025
MONDO:0975854 craniosynostosis 6 DOID:0061008 MONDO:equivalentTo craniosynostosis 6 MONDO:0015469,MONDO:0000426
MONDO:0975855 craniosynostosis 2 DOID:0061009 MONDO:equivalentTo craniosynostosis 2 MONDO:0015469,MONDO:0000426
MONDO:0975856 craniosynostosis 1 DOID:0061010 MONDO:equivalentTo craniosynostosis 1 MONDO:0015469,MONDO:0000426
MONDO:0975857 craniosynostosis 3 DOID:0061011 MONDO:equivalentTo craniosynostosis 3 MONDO:0015469,MONDO:0000426
MONDO:0975858 craniosynostosis 4 DOID:0061012 MONDO:equivalentTo craniosynostosis 4 MONDO:0015469,MONDO:0000426
MONDO:0975859 ovarian dysgenesis 9 DOID:0061013 MONDO:equivalentTo ovarian dysgenesis 9 MONDO:0009299,MONDO:0006025
MONDO:0975860 ovarian dysgenesis 10 DOID:0061014 MONDO:equivalentTo ovarian dysgenesis 10 MONDO:0009299,MONDO:0006025
MONDO:0975861 ring chromosome syndrome DOID:0070620 MONDO:equivalentTo ring chromosome syndrome MONDO:0019040
MONDO:0975862 b-lymphoblastic leukemia with mef2d rearrangement DOID:0070623 MONDO:equivalentTo B-lymphoblastic leukemia with MEF2D rearrangement MONDO:0004947
MONDO:0975863 b-lymphoblastic leukemia with myc rearrangement DOID:0070624 MONDO:equivalentTo B-lymphoblastic leukemia with MYC rearrangement MONDO:0004947
MONDO:0975864 b-lymphoblastic leukemia with nutm1 rearrangement DOID:0070625 MONDO:equivalentTo B-lymphoblastic leukemia with NUTM1 rearrangement MONDO:0004947
MONDO:0975865 b-lymphoblastic leukemia with pax5alt DOID:0070626 MONDO:equivalentTo B-lymphoblastic leukemia with PAX5alt MONDO:0004947
MONDO:0975866 b-lymphoblastic leukemia with tcf3-hlf fusion DOID:0070627 MONDO:equivalentTo B-lymphoblastic leukemia with TCF3-HLF fusion MONDO:0004947
MONDO:0975867 b-lymphoblastic leukemia with znf384 rearrangement DOID:0070628 MONDO:equivalentTo B-lymphoblastic leukemia with ZNF384 rearrangement MONDO:0004947
MONDO:0975868 acute myeloid leukemia with cbfa2t3-glis2 fusion DOID:0070629 MONDO:equivalentTo acute myeloid leukemia with CBFA2T3-GLIS2 fusion MONDO:0018874
MONDO:0975869 acute myeloid leukemia with kat6a-crebbp fusion DOID:0070630 MONDO:equivalentTo acute myeloid leukemia with KAT6A-CREBBP fusion MONDO:0018874
MONDO:0975870 acute myeloid leukemia with fus-erg fusion DOID:0070631 MONDO:equivalentTo acute myeloid leukemia with FUS-ERG fusion MONDO:0018874
MONDO:0975871 acute myeloid leukemia with mnx1-etv6 fusion DOID:0070632 MONDO:equivalentTo acute myeloid leukemia with MNX1-ETV6 fusion MONDO:0018874
MONDO:0975872 acute myeloid leukemia with npm1-mlf1 fusion DOID:0070633 MONDO:equivalentTo acute myeloid leukemia with NPM1-MLF1 fusion MONDO:0018874
MONDO:0975929 congenital dyserythropoietic anemia type iiib DOID:0051001 MONDO:equivalentTo congenital dyserythropoietic anemia type IIIb A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13. MONDO:0019403,MONDO:0006025
MONDO:0975930 congenital dyserythropoietic anemia type ivb DOID:0051002 MONDO:equivalentTo congenital dyserythropoietic anemia type IVb A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13. MONDO:0019403
MONDO:0975931 congenital nonspherocytic hemolytic anemia 1 DOID:0051003 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 1 A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia. MONDO:0006506,MONDO:0000425
MONDO:0975932 congenital nonspherocytic hemolytic anemia 3 DOID:0051004 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 3 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34. MONDO:0006506,MONDO:0006025
MONDO:0975933 congenital nonspherocytic hemolytic anemia 4 DOID:0051005 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 4 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13. MONDO:0006506,MONDO:0006025
MONDO:0975934 congenital nonspherocytic hemolytic anemia 5 DOID:0051006 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 5 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22. MONDO:0006506,MONDO:0006025
MONDO:0975935 congenital nonspherocytic hemolytic anemia 8 DOID:0051007 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 8 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14. MONDO:0006506,MONDO:0006025
MONDO:0975936 congenital nonspherocytic hemolytic anemia 9 DOID:0051008 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 9 A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11. MONDO:0006506,MONDO:0020605
MONDO:0975937 congenital nonspherocytic hemolytic anemia 10 DOID:0051009 MONDO:equivalentTo congenital nonspherocytic hemolytic anemia 10 A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21. MONDO:0006506
MONDO:0975938 bryant-li-bhoj neurodevelopmental syndrome DOID:0051010 MONDO:equivalentTo Bryant-Li-Bhoj neurodevelopmental syndrome An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. MONDO:0015802
MONDO:0975939 pseudohypoparathyroidism type 1c DOID:0051013 MONDO:equivalentTo pseudohypoparathyroidism type 1C A pseudohypoparathyroidism that has_material_basis_in a heterozygous mutation on the maternal allele of the GNAS gene on chromosome 20q13. MONDO:0019992
MONDO:0975940 female-restricted wieacker-wolff syndrome DOID:0061015 MONDO:equivalentTo female-restricted Wieacker-Wolff syndrome MONDO:0020604,MONDO:0020119
MONDO:0975941 combined or isolated pituitary growth hormone deficiency 7 DOID:0061016 MONDO:equivalentTo combined or isolated pituitary growth hormone deficiency 7 MONDO:0019591,MONDO:0006025
MONDO:0975942 combined pituitary hormone deficiency 4 DOID:0061017 MONDO:equivalentTo combined pituitary hormone deficiency 4 MONDO:0019591,MONDO:0000426
MONDO:0975943 combined or isolated pituitary hormone deficiency 8 DOID:0061018 MONDO:equivalentTo combined or isolated pituitary hormone deficiency 8 MONDO:0019591,MONDO:0000426
MONDO:0975944 combined or isolated pituitary hormone deficiency 1 DOID:0061019 MONDO:equivalentTo combined or isolated pituitary hormone deficiency 1 MONDO:0019591,MONDO:0006025,MONDO:0000426
MONDO:0975945 combined pituitary hormone deficiency 2 DOID:0061020 MONDO:equivalentTo combined pituitary hormone deficiency 2 MONDO:0019591,MONDO:0006025
MONDO:0975946 combined pituitary hormone deficiency 3 DOID:0061021 MONDO:equivalentTo combined pituitary hormone deficiency 3 MONDO:0019591,MONDO:0006025
MONDO:0975947 combined pituitary hormone deficiency 6 DOID:0061022 MONDO:equivalentTo combined pituitary hormone deficiency 6 MONDO:0019591,MONDO:0000426
MONDO:0975948 nonphotosensitive trichothiodystrophy 8 DOID:0061023 MONDO:equivalentTo nonphotosensitive trichothiodystrophy 8 MONDO:0009317,MONDO:0006025
MONDO:0975949 nonphotosensitive trichothiodystrophy 9 DOID:0061024 MONDO:equivalentTo nonphotosensitive trichothiodystrophy 9 MONDO:0009317,MONDO:0006025
MONDO:0975961 adult onset demyelinating leukodystrophy DOID:0051015 MONDO:equivalentTo adult onset demyelinating leukodystrophy A leukodystrophy that is characterized by central nervous system demyelination, leading to autonomic dysfunction, ataxia and mild cognitive impairment. MONDO:0019046
MONDO:0975962 visceral heterotaxy 1 DOID:0051016 MONDO:equivalentTo visceral heterotaxy 1 MONDO:0020605,MONDO:0018677
MONDO:0975963 visceral heterotaxy 2 DOID:0051017 MONDO:equivalentTo visceral heterotaxy 2 MONDO:0000426,MONDO:0018677
MONDO:0975964 visceral heterotaxy 3 DOID:0051018 MONDO:equivalentTo visceral heterotaxy 3 MONDO:0018677
MONDO:0975965 visceral heterotaxy 4 DOID:0051019 MONDO:equivalentTo visceral heterotaxy 4 MONDO:0018677
MONDO:0975966 visceral heterotaxy 6 DOID:0051020 MONDO:equivalentTo visceral heterotaxy 6 MONDO:0006025,MONDO:0018677
MONDO:0975967 visceral heterotaxy 7 DOID:0051021 MONDO:equivalentTo visceral heterotaxy 7 MONDO:0006025,MONDO:0018677
MONDO:0975968 visceral heterotaxy 8 DOID:0051022 MONDO:equivalentTo visceral heterotaxy 8 MONDO:0006025,MONDO:0018677
MONDO:0975969 visceral heterotaxy 9 DOID:0051023 MONDO:equivalentTo visceral heterotaxy 9 MONDO:0006025,MONDO:0018677
MONDO:0975970 visceral heterotaxy 10 DOID:0051024 MONDO:equivalentTo visceral heterotaxy 10 MONDO:0006025,MONDO:0018677
MONDO:0975971 visceral heterotaxy 11 DOID:0051025 MONDO:equivalentTo visceral heterotaxy 11 MONDO:0006025,MONDO:0018677
MONDO:0975972 visceral heterotaxy 12 DOID:0051026 MONDO:equivalentTo visceral heterotaxy 12 MONDO:0006025,MONDO:0018677
MONDO:0975973 visceral heterotaxy 13 DOID:0051027 MONDO:equivalentTo visceral heterotaxy 13 MONDO:0006025,MONDO:0018677
MONDO:0975974 autosomal recessive axonal charcot-marie-tooth disease with vocal cord paresis DOID:0051028 MONDO:equivalentTo autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis MONDO:0006025,MONDO:0018995
MONDO:0975975 mitochondrial dna depletion syndrome-21 DOID:0051029 MONDO:equivalentTo mitochondrial DNA depletion syndrome-21 MONDO:0018158
MONDO:0975976 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia DOID:0051030 MONDO:equivalentTo neurodevelopmental disorder with microcephaly, absent speech, and hypotonia MONDO:0019502
MONDO:0975977 primary autosomal recessive microcephaly 20 DOID:0051031 MONDO:equivalentTo primary autosomal recessive microcephaly 20 MONDO:0016660
MONDO:0975978 primary autosomal recessive microcephaly 21 DOID:0051032 MONDO:equivalentTo primary autosomal recessive microcephaly 21 MONDO:0016660
MONDO:0975979 primary autosomal recessive microcephaly 22 DOID:0051033 MONDO:equivalentTo primary autosomal recessive microcephaly 22 MONDO:0016660
MONDO:0975980 primary autosomal recessive microcephaly 23 DOID:0051034 MONDO:equivalentTo primary autosomal recessive microcephaly 23 MONDO:0016660
MONDO:0975981 primary autosomal recessive microcephaly 24 DOID:0051035 MONDO:equivalentTo primary autosomal recessive microcephaly 24 MONDO:0016660
MONDO:0975982 primary autosomal recessive microcephaly 25 DOID:0051036 MONDO:equivalentTo primary autosomal recessive microcephaly 25 MONDO:0016660
MONDO:0975985 primary autosomal recessive microcephaly 28 DOID:0051039 MONDO:equivalentTo primary autosomal recessive microcephaly 28 MONDO:0016660
MONDO:0975986 primary autosomal recessive microcephaly 29 DOID:0051040 MONDO:equivalentTo primary autosomal recessive microcephaly 29 MONDO:0016660
MONDO:0975987 primary autosomal recessive microcephaly 30 DOID:0051041 MONDO:equivalentTo primary autosomal recessive microcephaly 30 MONDO:0016660
MONDO:0975988 familial restrictive cardiomyopathy 6 DOID:0061025 MONDO:equivalentTo familial restrictive cardiomyopathy 6 MONDO:0005201,MONDO:0006025
MONDO:0975989 hereditary pyropoikilocytosis DOID:0061026 MONDO:equivalentTo hereditary pyropoikilocytosis MONDO:0003664,MONDO:0006025
MONDO:0975990 duane retraction syndrome 1 DOID:0061027 MONDO:equivalentTo Duane retraction syndrome 1 MONDO:0007473,MONDO:0000426
MONDO:0975991 duane retraction syndrome 2 DOID:0061028 MONDO:equivalentTo Duane retraction syndrome 2 MONDO:0007473,MONDO:0000426
MONDO:0975992 duane retraction syndrome 3 DOID:0061029 MONDO:equivalentTo Duane retraction syndrome 3 MONDO:0007473,MONDO:0000426
MONDO:0975993 hemophilia DOID:0061030 MONDO:equivalentTo hemophilia MONDO:0001531
MONDO:0976140 autosomal dominant distal hereditary motor neuronopathy 15 DOID:0051042 MONDO:equivalentTo autosomal dominant distal hereditary motor neuronopathy 15 An autosomal dominant distal hereditary motor neuronopathy that is characterized by adult onset of slowly progressive distal weakness and atrophy of the lower limbs associated with absent reflexes and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. MONDO:0015362
MONDO:0976141 charcot-marie-tooth disease axonal type 2jj DOID:0051043 MONDO:equivalentTo Charcot-Marie-Tooth disease axonal type 2JJ A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. MONDO:0000426,MONDO:0018993
MONDO:0976142 infantile-onset myofibrillar myopathy 12 with cardiomyopathy DOID:0051044 MONDO:equivalentTo infantile-onset myofibrillar myopathy 12 with cardiomyopathy A myofibrillar myopathy that is characterized by tremor or clonus at birth, followed by onset of rapidly progressive generalized muscle weakness and dilated cardiomyopathy and cardiac failure and that has_material_basis_in homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. MONDO:0018943,MONDO:0006025
MONDO:0976143 myofibrillar myopathy 13 with rimmed vacuoles DOID:0051045 MONDO:equivalentTo myofibrillar myopathy 13 with rimmed vacuoles A myofibrillar myopathy that is characterized by progressive muscle weakness and atrophy usually beginning in adulthood, although rare patients may have earlier onset, even in childhood and that has_material_basis_in heterozygous mutation in the HSPB8 gene on chromosome 12q24. MONDO:0018943,MONDO:0000426
MONDO:0976144 spondyloepimetaphyseal dysplasia, li-shao-li type DOID:0051046 MONDO:equivalentTo spondyloepimetaphyseal dysplasia, Li-Shao-Li type A spondyloepimetaphyseal dysplasia that is characterized by childhood-onset defective skeletal development, including disproportionate short stature with relatively short lower limbs, limited joint flexion, premature osteoarthritis-like changes in weight-bearing joints, and low bone mass and that has_material_basis_in heterozygous mutation in the CCN2 gene on chromosome 6q23. MONDO:0100510
MONDO:0976145 congenital disorder of glycosylation type iibb DOID:0051047 MONDO:equivalentTo congenital disorder of glycosylation type IIbb A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14. MONDO:0006025,MONDO:0005501
MONDO:0976146 congenital disorder of glycosylation type iir DOID:0051048 MONDO:equivalentTo congenital disorder of glycosylation type IIr A congenital disorder of glycosylation type II that is characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa and that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. MONDO:0020605,MONDO:0005501
MONDO:0976147 congenital disorder of glycosylation type iit DOID:0051049 MONDO:equivalentTo congenital disorder of glycosylation type IIt A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41. MONDO:0006025,MONDO:0005501
MONDO:0976148 congenital disorder of glycosylation type iiv DOID:0051050 MONDO:equivalentTo congenital disorder of glycosylation type IIv A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. MONDO:0006025,MONDO:0005501
MONDO:0976149 congenital disorder of glycosylation type iiw DOID:0051051 MONDO:equivalentTo congenital disorder of glycosylation type IIw A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. MONDO:0000426,MONDO:0005501
MONDO:0976150 congenital disorder of glycosylation type iiy DOID:0051052 MONDO:equivalentTo congenital disorder of glycosylation type IIy A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22. MONDO:0006025,MONDO:0005501
MONDO:0976151 congenital disorder of glycosylation type iiz DOID:0051053 MONDO:equivalentTo congenital disorder of glycosylation type IIz A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23. MONDO:0006025,MONDO:0005501
MONDO:0976152 46,xy gonadal dysgenesis with minifascicular neuropathy DOID:0051055 MONDO:equivalentTo 46,XY gonadal dysgenesis with minifascicular neuropathy A gonadal dysgenesis that characterized by minifascicular neuropathy and that has_material_basis_in mutation in the desert hedgehog gene (DHH). MONDO:0001967
MONDO:0976153 autosomal dominant intellectual developmental disorder 57 DOID:0061031 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 57 MONDO:0015802
MONDO:0976154 autosomal dominant intellectual developmental disorder 58 DOID:0061032 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 58 MONDO:0015802
MONDO:0976155 autosomal dominant intellectual developmental disorder 59 DOID:0061033 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 59 MONDO:0015802
MONDO:0976156 autosomal dominant intellectual developmental disorder 61 DOID:0061034 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 61 MONDO:0015802
MONDO:0976157 autosomal dominant intellectual developmental disorder 62 DOID:0061035 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 62 MONDO:0015802
MONDO:0976158 autosomal dominant intellectual developmental disorder 63 with macrocephaly DOID:0061036 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 63 with macrocephaly MONDO:0015802
MONDO:0976159 autosomal dominant intellectual developmental disorder 64 DOID:0061037 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 64 MONDO:0015802
MONDO:0976160 autosomal dominant intellectual developmental disorder 65 DOID:0061038 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 65 MONDO:0015802
MONDO:0976161 autosomal dominant intellectual developmental disorder 66 DOID:0061039 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 66 MONDO:0015802
MONDO:0976162 autosomal dominant intellectual developmental disorder 67 DOID:0061040 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 67 MONDO:0015802
MONDO:0976163 autosomal dominant intellectual developmental disorder 68 DOID:0061041 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 68 MONDO:0015802
MONDO:0976164 autosomal dominant intellectual developmental disorder 69 DOID:0061042 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 69 MONDO:0015802
MONDO:0976165 autosomal dominant intellectual developmental disorder 70 DOID:0061043 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 70 MONDO:0015802
MONDO:0976166 autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities DOID:0061044 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities MONDO:0015802
MONDO:0976167 autosomal dominant intellectual developmental disorder 72 DOID:0061045 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 72 MONDO:0015802
MONDO:0976168 autosomal dominant intellectual developmental disorder 73 DOID:0061046 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 73 MONDO:0015802
MONDO:0976169 autosomal dominant intellectual developmental disorder 74 DOID:0061047 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 74 MONDO:0015802
MONDO:0976170 autosomal dominant intellectual developmental disorder 75 DOID:0061048 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 75 MONDO:0015802
MONDO:0976171 autosomal dominant intellectual developmental disorder type fra12a DOID:0061049 MONDO:equivalentTo autosomal dominant intellectual developmental disorder type FRA12A MONDO:0015802
MONDO:0976172 autosomal dominant intellectual developmental disorder 60 with seizures DOID:0061050 MONDO:equivalentTo autosomal dominant intellectual developmental disorder 60 with seizures MONDO:0015802
MONDO:0976173 immunodeficiency 80 DOID:0061051 MONDO:equivalentTo immunodeficiency 80 MONDO:0003778,MONDO:0006025
MONDO:0976174 immunodeficiency 81 DOID:0061052 MONDO:equivalentTo immunodeficiency 81 MONDO:0003778,MONDO:0006025
MONDO:0976175 immunodeficiency 82 DOID:0061053 MONDO:equivalentTo immunodeficiency 82 MONDO:0003778,MONDO:0000426
MONDO:0976176 immunodeficiency 84 DOID:0061054 MONDO:equivalentTo immunodeficiency 84 MONDO:0003778,MONDO:0000426
MONDO:0976177 immunodeficiency 85 DOID:0061055 MONDO:equivalentTo immunodeficiency 85 MONDO:0003778,MONDO:0000426
MONDO:0976178 immunodeficiency 86 DOID:0061056 MONDO:equivalentTo immunodeficiency 86 MONDO:0001222,MONDO:0006025
MONDO:0976179 immunodeficiency 87 DOID:0061057 MONDO:equivalentTo immunodeficiency 87 MONDO:0001222,MONDO:0006025
MONDO:0976180 immunodeficiency 88 DOID:0061058 MONDO:equivalentTo immunodeficiency 88 MONDO:0003778,MONDO:0006025
MONDO:0976181 immunodeficiency 89 DOID:0061059 MONDO:equivalentTo immunodeficiency 89 MONDO:0003778,MONDO:0006025
MONDO:0976182 immunodeficiency 90 DOID:0061060 MONDO:equivalentTo immunodeficiency 90 MONDO:0003778,MONDO:0006025
MONDO:0976183 immunodeficiency 91 DOID:0061061 MONDO:equivalentTo immunodeficiency 91 MONDO:0003778,MONDO:0006025
MONDO:0976184 immunodeficiency 92 DOID:0061062 MONDO:equivalentTo immunodeficiency 92 MONDO:0003778,MONDO:0006025
MONDO:0976185 immunodeficiency 93 DOID:0061063 MONDO:equivalentTo immunodeficiency 93 MONDO:0003778,MONDO:0006025
MONDO:0976186 immunodeficiency 94 DOID:0061064 MONDO:equivalentTo immunodeficiency 94 MONDO:0003778,MONDO:0000426
MONDO:0976187 immunodeficiency 95 DOID:0061065 MONDO:equivalentTo immunodeficiency 95 MONDO:0003778,MONDO:0006025
MONDO:0976188 immunodeficiency 96 DOID:0061066 MONDO:equivalentTo immunodeficiency 96 MONDO:0003778,MONDO:0006025
MONDO:0976189 immunodeficiency 97 DOID:0061067 MONDO:equivalentTo immunodeficiency 97 MONDO:0850200,MONDO:0006025
MONDO:0976190 immunodeficiency 98 DOID:0061068 MONDO:equivalentTo immunodeficiency 98 MONDO:0015131,MONDO:0020605
MONDO:0976191 immunodeficiency 99 DOID:0061069 MONDO:equivalentTo immunodeficiency 99 MONDO:0015131,MONDO:0006025
MONDO:0976192 immunodeficiency 100 DOID:0061070 MONDO:equivalentTo immunodeficiency 100 MONDO:0005275,MONDO:0003778,MONDO:0000426
MONDO:0976193 immunodeficiency 101 DOID:0061071 MONDO:equivalentTo immunodeficiency 101 MONDO:0003778,MONDO:0000426
MONDO:0976194 immunodeficiency 102 DOID:0061072 MONDO:equivalentTo immunodeficiency 102 MONDO:0850200,MONDO:0020605
MONDO:0976195 perrault syndrome 7 DOID:0061073 MONDO:equivalentTo Perrault syndrome 7 MONDO:0017312
MONDO:0976196 severe combined immunodeficiency 105 DOID:0061074 MONDO:equivalentTo severe combined immunodeficiency 105 MONDO:0015974,MONDO:0006025
MONDO:0976197 immunodeficiency 106 DOID:0061075 MONDO:equivalentTo immunodeficiency 106 MONDO:0003778,MONDO:0006025
MONDO:0976198 immunodeficiency 107 DOID:0061076 MONDO:equivalentTo immunodeficiency 107 MONDO:0005275,MONDO:0003778,MONDO:0000426
MONDO:0976199 immunodeficiency 108 DOID:0061077 MONDO:equivalentTo immunodeficiency 108 MONDO:0003778,MONDO:0006025
MONDO:0976200 immunodeficiency 109 DOID:0061078 MONDO:equivalentTo immunodeficiency 109 MONDO:0003778,MONDO:0006025
MONDO:0976201 immunodeficiency 112 DOID:0061079 MONDO:equivalentTo immunodeficiency 112 MONDO:0006025
MONDO:0976202 immunodeficiency 114 DOID:0061080 MONDO:equivalentTo immunodeficiency 114 MONDO:0003778,MONDO:0006025
MONDO:0976203 immunodeficiency 115 DOID:0061081 MONDO:equivalentTo immunodeficiency 115 MONDO:0003778,MONDO:0006025
MONDO:0976204 immunodeficiency 116 DOID:0061082 MONDO:equivalentTo immunodeficiency 116 MONDO:0001222,MONDO:0006025
MONDO:0976205 immunodeficiency 117 DOID:0061083 MONDO:equivalentTo immunodeficiency 117 MONDO:0850200,MONDO:0006025
MONDO:0976206 immunodeficiency 118 DOID:0061084 MONDO:equivalentTo immunodeficiency 118 MONDO:0003778,MONDO:0020605
MONDO:0976207 immunodeficiency 119 DOID:0061085 MONDO:equivalentTo immunodeficiency 119 MONDO:0006025
MONDO:0976208 immunodeficiency 120 DOID:0061086 MONDO:equivalentTo immunodeficiency 120 MONDO:0015131,MONDO:0006025
MONDO:0976209 immunodeficiency 121 DOID:0061087 MONDO:equivalentTo immunodeficiency 121 MONDO:0015974,MONDO:0000426
MONDO:0976210 immunodeficiency 122 DOID:0061088 MONDO:equivalentTo immunodeficiency 122 MONDO:0006025
MONDO:0976211 immunodeficiency 123 DOID:0061089 MONDO:equivalentTo immunodeficiency 123 MONDO:0001222,MONDO:0006025
MONDO:0976212 severe combined immunodeficiency 124 DOID:0061090 MONDO:equivalentTo severe combined immunodeficiency 124 MONDO:0015974,MONDO:0006025
MONDO:0976213 immunodeficiency 125 DOID:0061091 MONDO:equivalentTo immunodeficiency 125 MONDO:0002211,MONDO:0006025
MONDO:0976214 immunodeficiency 127 DOID:0061092 MONDO:equivalentTo immunodeficiency 127 MONDO:0003778,MONDO:0006025
MONDO:0976215 immunodeficiency 128 DOID:0061093 MONDO:equivalentTo immunodeficiency 128 MONDO:0006025
MONDO:0976216 immunodeficiency 129 DOID:0061094 MONDO:equivalentTo immunodeficiency 129 MONDO:0001222,MONDO:0006025
MONDO:0976217 immunodeficiency 130 DOID:0061095 MONDO:equivalentTo immunodeficiency 130 MONDO:0005093,MONDO:0001222,MONDO:0006025
MONDO:0976218 immunodeficiency 133 DOID:0061096 MONDO:equivalentTo immunodeficiency 133 MONDO:0003778,MONDO:0006025
MONDO:0976219 immunodeficiency 132b DOID:0061097 MONDO:equivalentTo immunodeficiency 132B MONDO:0003778,MONDO:0000426
MONDO:0976220 carpenter syndrome 1 DOID:0061098 MONDO:equivalentTo Carpenter syndrome 1 MONDO:0019012,MONDO:0006025
MONDO:0976221 carpenter syndrome 2 DOID:0061099 MONDO:equivalentTo Carpenter syndrome 2 MONDO:0019012,MONDO:0006025
MONDO:0976222 autosomal dominant primary microcephaly DOID:0061100 MONDO:equivalentTo autosomal dominant primary microcephaly MONDO:0016056,MONDO:0000426
MONDO:0976223 immunodeficiency 132a DOID:0061101 MONDO:equivalentTo immunodeficiency 132A MONDO:0003778,MONDO:0000426
MONDO:0976224 hypertrophic cardiomyopathy 27 DOID:0061102 MONDO:equivalentTo hypertrophic cardiomyopathy 27 MONDO:0024573,MONDO:0006025