sameAs
inherited pseudoxanthoma elasticumWerner syndromeNijmegen breakage syndromenephronophthisiscongenital muscular dystrophyEllis-Van Creveld syndromeFraser syndromeBloom syndromegangliosidosisHermansky-Pudlak syndromeautosomal recessive axonal hereditary motor and sensory neuropathyautosomal recessive intermediate Charcot-Marie-Tooth diseaseBardet-Biedl syndromemultiple pterygium syndromeautosomal recessive distal spinal muscular atrophy 2Johanson-Blizzard syndromeachondrogenesis type IBPendred syndromepermanent neonatal diabetes mellitusSotos syndromecystic fibrosissickle-cell diseasethalassemiaAlstrom syndromeadult spinal muscular atrophyJMP syndromeautosomal recessive nonsyndromic deafnessacrocapitofemoral dysplasiaAthabaskan brainstem dysgenesis syndromeBowen-Conradi syndromeachalasia microcephaly syndromeEhlers-Danlos syndrome progeroid typeKahrizi syndromePerrault syndromeCD3epsilon deficiencyCD3gamma deficiencyacromesomelic dysplasia, Maroteaux typeacromesomelic dysplasia, Hunter-Thompson typehypertelorism, microtia, facial clefting syndromemultiple intestinal atresia
P279
Q1052391-142D59E2-F5AC-4860-9C16-6F7D46C8254DQ1154619-D3317906-0DF8-4EDF-88D4-8B190D7961E7Q1250362-8E255F3E-2CC3-4641-B7B4-703266D1BB02Q1257011-0A3EA9B8-7BAA-4C13-A49E-B96C0E74E484Q1321884-b6b8f583-4cec-8d77-bc27-729b611783cfQ1332448-7A51F148-784E-46E9-843E-A55731AF2C78Q1425572-FD29BD7D-2036-49A4-9084-0C78DD85692AQ1469646-3ACE7A2E-079E-4041-98BA-11212D026158Q1493513-EE503069-EE39-4D17-9D88-8186E9BB23F1Q1506216-BE915922-5429-4A01-A9A9-6A3920451B9CQ16662546-4B219775-F178-417D-9247-B3233E8D92FEQ16662548-1755DF3F-57B4-4C05-9690-EC23A3F9F6ADQ1678281-9CA6B2BF-7D63-42A5-BC29-F1CDE7630082Q16889762-E5B8BB9D-2E8B-43C6-B40D-6C7DB4D03356Q16944450-A276B5B0-4761-473B-9810-AA4DAEC53905Q1699007-40444803-212C-44D4-8F82-CB64DFBF2706Q17010855-DF38E202-95C7-42AC-8A11-4EAF44B82CFDQ1707822-D9AD5A06-13E6-4C4C-92A2-AF731C05A506Q17143640-DD9E6D4F-DB7B-48F6-BB81-A9A51BD289FDQ1770836-622F6FD2-918A-49E6-B914-F3FCCBB66F20Q178194-39AD9A74-38C5-4CC3-8542-93CA4F861A38Q185034-358B5203-D0F0-4B8E-BE11-FC5A2D6D4F7FQ185137-8DAAF23A-74B4-4FF2-99A7-D3188E8DF1C9Q18553270-9BA49B46-93E1-4D39-A1C8-5AD138973CE1Q18553288-18A1324D-BE51-43D6-A128-C961E7AE5FD8Q18553304-9B581173-8F3A-4079-AECF-78D90CFC58D9Q18553310-F28EE842-5EBF-44FF-9108-0A75A4260FDEQ18553334-0A8A567C-A595-408B-8F79-A4E225743179Q18553396-5ED45C1A-0FB9-49EE-8C27-295B66BE3D1DQ18553398-37C45315-0234-4D19-B7D7-AAB59D8CD863Q18553480-B77AABF7-D684-42F9-98D5-352E4408784AQ18553484-A44174A0-959E-4AED-955B-B463F990402AQ18553489-3AFA5813-4123-485A-B173-4E18B7D2F05EQ18553517-AD0DE326-6C52-4254-A0C6-0EA04B94C0E1Q18553595-5334A31A-935B-4253-AC1B-9181AED16DE8Q18553596-6E7A8602-035B-4DE7-8859-FAEC32E50B9FQ18553753-51FD39DC-A42C-4FB4-9DB0-D82D96686427Q18553754-27B2A39C-47A2-4701-AF11-F93EBD9E276AQ18554800-A08DBADE-1157-44A9-937A-9795E292EAFCQ18554801-BAB5326A-D4BF-476C-ACFE-A0C2906206AE
P279
description
Krankheit
@de
clefyd genetig
@cy
genetic disease characterized ...... he disease or trait to develop
@en
malattia genetica
@it
генэтычнае захворваньне з наяўнасьцю двух мутаваных копіяў гену
@be-tarask
مرض بشري
@ar
name
autosomal recessive disease
@en
autosomalt recessiv sjukdom
@nn
clefyd otosomal enciliol
@cy
enfermedad autosómica recesiva
@es
maladie à transmission autosomique récessive
@fr
malaltia autosòmica recessiva
@ca
malattia autosomica recessiva
@it
аўтасомна-рэцэсіўнае захворваньне
@be-tarask
заболевание с аутосомно-рецессивным типом наследования
@ru
աուտոսոմ ռեցեսիվ հիվանդություն
@hy
type
label
autosomal recessive disease
@en
autosomalt recessiv sjukdom
@nn
clefyd otosomal enciliol
@cy
enfermedad autosómica recesiva
@es
maladie à transmission autosomique récessive
@fr
malaltia autosòmica recessiva
@ca
malattia autosomica recessiva
@it
аўтасомна-рэцэсіўнае захворваньне
@be-tarask
заболевание с аутосомно-рецессивным типом наследования
@ru
աուտոսոմ ռեցեսիվ հիվանդություն
@hy
altLabel
autosomal recessive hereditary disease
@en
autosomal recessive hereditary disorder
@en
autosomal recessive inherited disease
@en
autosomal recessive inherited disorder
@en
disease, autosomal recessive
@en
enfermedad autosomica recesiva
@es
recessive hereditary disorder (autosomal)
@en
аўтасомнае рэцэсіўнае захворваньне
@be-tarask
prefLabel
autosomal recessive disease
@en
autosomalt recessiv sjukdom
@nn
clefyd otosomal enciliol
@cy
enfermedad autosómica recesiva
@es
maladie à transmission autosomique récessive
@fr
malaltia autosòmica recessiva
@ca
malattia autosomica recessiva
@it
аўтасомна-рэцэсіўнае захворваньне
@be-tarask
заболевание с аутосомно-рецессивным типом наследования
@ru
աուտոսոմ ռեցեսիվ հիվանդություն
@hy
P1692
P31
P373
Autosomal recessive diseases
P5270
MONDO:0006025
P699
DOID:0050737