798
(42.2%)

Lambert syndrome
----
Lambert 症候群

黄疸 鼠径ヘルニア

常染色体劣性遺伝

Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.  >> 翻訳 (Google)

798
(42.2%)

cholestasis with gallstone, ataxia, and visual disturbance
----
胆汁うっ滞-胆石-運動失調-視力障害

網膜変性 黄疸

常染色体劣性遺伝

798
(42.2%)

dysmyelination with jaundice
----
脱髄-黄疸

停留精巣 黄疸

常染色体劣性遺伝

798
(42.2%)

peroxisome biogenesis disorder 10b
----
ペルオキシソーム生合成異常症10B

神経因性膀胱 遷延性新生児黄疸

常染色体劣性遺伝

798
(42.2%)

pituitary hormone deficiency, combined, 1
----
下垂体ホルモン欠損症, 混合性, 1

巨舌 黄疸

常染色体優性遺伝 常染色体劣性遺伝

Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.  >> 翻訳 (Google)

798
(42.2%)

microcephalic osteodysplastic primordial dwarfism type I
----
小頭性骨異形成性原発性小人症 I

停留精巣 遷延性新生児黄疸

常染色体劣性遺伝

A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.  >> 翻訳 (Google)

807
(42.1%)

cleft lip/palate-intestinal malrotation-cardiopathy syndrome
----
口唇口蓋裂-特徴的顔貌-腸回転異常-致死性心奇形

内臓肥大 膵頭部細胞過形成 舌の異常

常染色体劣性遺伝

Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.  >> 翻訳 (Google)

808
(42.0%)

Finnish type amyloidosis
----
アミロイドーシス, フィンランド型

全身性アミロイド沈着 弛緩性皮膚 腎不全 腹部の異常

常染色体優性遺伝

808
(42.0%)

thyrotoxicosis
----
Graves 病への感受性1

代謝/ホメオスターシスの異常 前脛骨部粘液水腫 眼球突出 腹部の異常

A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis.  >> 翻訳 (Google)

808
(42.0%)

hypotonia with lactic acidemia and hyperammonemia
----
混合性酸化的リン酸化欠乏症5

浮腫 腎尿細管異常 腹水 豊富な頸部皮膚

常染色体劣性遺伝

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.  >> 翻訳 (Google)

811
(42.0%)

spastic paraplegia and Evans syndrome
----
痙性対麻痺 -Evans 症候群

Coombs 陽性溶血性貧血 痙性対麻痺 自己免疫性血小板減少

常染色体劣性遺伝

811
(42.0%)

pancytopenia-developmental delay syndrome
----
骨髄不全症候群2

小頭 白血球減少症 貧血

常染色体劣性遺伝

811
(42.0%)

eosinophilia, familial
----
好酸球増多症, 家族性

好酸球増多症 血小板減少 貧血

常染色体優性遺伝

Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors.  >> 翻訳 (Google)

811
(42.0%)

ghosal hematodiaphyseal dysplasia
----
Ghosal 造血骨幹異形成 (GHDD)

白血球減少症 血小板減少 難治性貧血

常染色体劣性遺伝

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.  >> 翻訳 (Google)

811
(42.0%)

Diamond-Blackfan anemia 4
----
Diamond-Blackfan 貧血 4

大球性貧血 好中球減少症 心房中隔欠損 網状赤血球減少症

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene.  >> 翻訳 (Google)

811
(42.0%)

Diamond-Blackfan anemia 8
----
Diamond-Blackfan 貧血 8 (DBA8)

分厚い上口唇唇紅部 大球性貧血 好中球減少症

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene.  >> 翻訳 (Google)

811
(42.0%)

Diamond-Blackfan anemia 5
----
Diamond-Blackfan 貧血 5

大球性貧血 尿道下裂 白血球減少症 網状赤血球減少症

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene.  >> 翻訳 (Google)

811
(42.0%)

radioulnar synostosis with amegakaryocytic thrombocytopenia 2
----
橈尺骨癒合-無巨核芽球性血小板減少2

好中球減少症 貧血 陰嚢水腫

常染色体優性遺伝

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.  >> 翻訳 (Google)

811
(42.0%)

Diamond-Blackfan anemia 11
----
Diamond-Blackfan 貧血 11

好中球減少症 腎無発生 貧血

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.  >> 翻訳 (Google)

811
(42.0%)

ataxia-pancytopenia syndrome
----
運動失調-汎血球減少症候群

再生不良性貧血 急性骨髄単球性白血病 眼振

常染色体優性遺伝

Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.  >> 翻訳 (Google)

821
(42.0%)

Diamond-Blackfan anemia 16
----
Diamond-Blackfan 貧血 16

心房中隔欠損 貧血

常染色体優性遺伝

821
(42.0%)

pulmonary hemosiderosis
----
肺ヘモジデローシス

反復性肺内出血 鉄欠乏症貧血

常染色体優性遺伝 常染色体劣性遺伝

Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.  >> 翻訳 (Google)

823
(42.0%)

neutrophil immunodeficiency syndrome
----
好中球免疫不全症候群

nitroblue tetrazolium (NBT) 還元試験陰性 傷治癒不全 直腸膿瘍

常染色体優性遺伝

Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.  >> 翻訳 (Google)

823
(42.0%)

leukocyte adhesion deficiency 1
----
白血球粘着欠乏症, I 型 (LAD; LAD1)

傷治癒不全 歯肉炎 白血球増多症 直腸膿瘍

常染色体劣性遺伝

Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections.  >> 翻訳 (Google)

823
(42.0%)

dyskeratosis congenita, autosomal dominant 2
----
角化異常症, 先天性, 常染色体優性, 2

慢性下痢 早発性毛髪白髪 歯の異常 血小板減少

常染色体優性遺伝 常染色体劣性遺伝 表現促進

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.  >> 翻訳 (Google)

826
(41.8%)

autosomal recessive cutis laxa type 2A
----
弛緩性皮膚, 常染色体劣性, IIA 型

弛緩性皮膚 血清トランスフェリンの等電点電気泳動異常 鼠径ヘルニア

常染色体劣性遺伝

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.  >> 翻訳 (Google)

827
(41.6%)

Fanconi anemia complementation group D1
----
Fanconi 貧血, 相補群 D1 (FANCD1; FAD1)

カフェオーレ斑 急性骨髄性白血病 架橋剤により誘発される染色体断裂 鎖肛

常染色体劣性遺伝

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.  >> 翻訳 (Google)

827
(41.6%)

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
----
Smith-Kingsmore 症候群

カフェオーレ斑 低血糖 臍ヘルニア 血小板減少

常染色体優性遺伝

827
(41.6%)

Dubowitz syndrome
----
Dubowitz 症候群

IgA欠乏症 仙骨部陥凹 再生不良性貧血 鼠径ヘルニア

常染色体劣性遺伝

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.  >> 翻訳 (Google)

830
(41.3%)

neonatal acute respiratory distress due to SP-B deficiency
----
サーファクタント代謝機能障害, 肺, 1

チアノーゼ 代謝/ホメオスターシスの異常 肺高血圧

常染色体劣性遺伝 Heterogeneous

830
(41.3%)

primary hyperoxaluria type 1
----
高修酸尿, 原発性, I 型

大理石皮膚 肢端チアノーゼ 腎不全 血尿

常染色体劣性遺伝

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.  >> 翻訳 (Google)

832
(41.2%)

hypercholanemia, familial 1
----
高コラン酸血症, 家族性

ビタミンK欠乏症 掻痒 脂肪便

常染色体劣性遺伝

A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.  >> 翻訳 (Google)

833
(41.1%)

Tn polyagglutination syndrome
----
Tn 多凝集症候群

自己免疫 赤血球の異常

体細胞突然変

833
(41.1%)

Monosomy 7 myelodysplasia and leukemia syndrome 1

巨大赤血球症 急性骨髄性白血病 血小板減少

常染色体優性遺伝 常染色体劣性遺伝

835
(41.1%)

Muckle-Wells syndrome
----
Muckle-Wells 症候群

白血球増多症 皮膚の異常 結膜炎 腎アミロイド症

常染色体優性遺伝

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).  >> 翻訳 (Google)

835
(41.1%)

hereditary mucoepithelial dysplasia
----
粘膜上皮異形成, 遺伝性

好酸球増多症 慢性粘膜皮膚カンジダ症 血尿 角結膜炎

常染色体優性遺伝

Hereditary mucoepithelial dysplasia (HMD) is a condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition.  >> 翻訳 (Google)

837
(41.0%)

laterality defects, autosomal dominant
----
側性奇形, 常染色体優性

成長異常 無脾症

常染色体優性遺伝

837
(41.0%)

heterotaxy, visceral, 4, autosomal
----
内臓逆位症, 4, 常染色体性

心室中隔欠損 異所性脾

常染色体優性遺伝

Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.  >> 翻訳 (Google)

837
(41.0%)

heterotaxy, visceral, 2, autosomal
----
内臓逆位, 2, 常染色体性 (HTX2)

多脾症 大血管転位

常染色体優性遺伝

837
(41.0%)

primary ciliary dyskinesia 14
----
繊毛ジスキネジア, 原発性, 14

中耳炎 多脾症

常染色体劣性遺伝

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.  >> 翻訳 (Google)

837
(41.0%)

holoprosencephaly 11
----
全前脳症 11

口蓋裂 多脾症

常染色体優性遺伝 孤発性

Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene.  >> 翻訳 (Google)

837
(41.0%)

isolated congenital hypoglossia/aglossia
----
舌低形成-内臓逆位

無脾症 狭い口

孤発性

Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS).  >> 翻訳 (Google)

837
(41.0%)

right atrial isomerism (disease)
----
右房イソメリズム

無脾症 鼠径ヘルニア

常染色体劣性遺伝

A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.  >> 翻訳 (Google)

837
(41.0%)

heterotaxy, visceral, 7, autosomal
----
内臓逆位症, 7, 常染色体性

多脾症 心房中隔欠損

常染色体劣性遺伝

Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.  >> 翻訳 (Google)

837
(41.0%)

primary ciliary dyskinesia 1
----
繊毛ジスキネジア, 原発性, 1 (CILD1)

副鼻腔炎 無脾症

常染色体劣性遺伝 Heterogeneous

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene.  >> 翻訳 (Google)

837
(41.0%)

tetraamelia syndrome 1
----
無四肢症候群 1

外性器欠損 無脾症

常染色体劣性遺伝 Heterogeneous

837
(41.0%)

heterotaxy, visceral, 1, X-linked
----
内臓逆位症, 1, X連鎖性(HTX1)

無脾症 馬蹄腎

X連鎖劣性遺伝

X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.  >> 翻訳 (Google)

837
(41.0%)

Sweeney-Cox syndrome
----
Sweeney-Cox 症候群

無脾症 狭い口

常染色体優性遺伝

837
(41.0%)

Feingold syndrome type 1
----
Feingold 症候群 1

無脾症 環状膵 高口蓋

常染色体優性遺伝

Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.  >> 翻訳 (Google)

837
(41.0%)

Matthew-Wood syndrome
----
無眼球症, 症候性 9

子宮低形成 脾低形成

常染色体劣性遺伝

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.  >> 翻訳 (Google)

837
(41.0%)

hydrolethalus syndrome 1
----
Hydrolethalus 症候群1

副脾 尿道下裂

常染色体劣性遺伝

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.  >> 翻訳 (Google)

852
(41.0%)

Jacobsen syndrome
----
Jacobsen 症候群

停留精巣 環状膵 血小板減少

孤発性

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.  >> 翻訳 (Google)

853
(40.9%)

congenital neuronal ceroid lipofuscinosis
----
セロイド蓄積症

肝不全 脾の異常

常染色体劣性遺伝

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.  >> 翻訳 (Google)

853
(40.9%)

Tuftsin deficiency
----
タフトシン欠損

脾の異常

常染色体優性遺伝

855
(40.8%)

hepatic veno-occlusive disease-immunodeficiency syndrome
----
肝静脈閉塞性疾患-免疫不全

IgG欠乏症 リンパ節胚中心の異常 小頭 肝の異常

常染色体劣性遺伝

Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.  >> 翻訳 (Google)

855
(40.8%)

Bruton-type agammaglobulinemia
----
無ガンマグロブリン血症, X連鎖性

エンテロウイルス肝炎 リンパ節低形成 反復性尿路感染症 無ガンマグロブリン血症

X連鎖劣性遺伝

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.  >> 翻訳 (Google)

857
(40.8%)

Noonan syndrome 1
----
Noonan 症候群 1 (NS1)

リンパ性浮腫 動脈管開存症 後部毛髪線低位 異常な出血

常染色体優性遺伝

Noonan syndrome caused by mutations in the PTPN11 gene.  >> 翻訳 (Google)

858
(40.7%)

Hennekam lymphangiectasia-lymphedema syndrome 1
----
Hennekam リンパ管拡張症-リンパ浮腫症候群1

リンパ性浮腫 両側性単一手掌横線 停留精巣 腸リンパ管拡張

常染色体劣性遺伝

Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.  >> 翻訳 (Google)

858
(40.7%)

Costello syndrome
----
Costello 症候群

Lymphangiectasis 低血糖 皮膚高色素 腎不全

常染色体優性遺伝 孤発性

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.  >> 翻訳 (Google)

860
(40.7%)

DK1-CDG
----
先天性グリコシル化障害 Im 型 (CDG1M)

拡張型心筋症 疎な眉毛 血清トランスフェリンの等電点電気泳動異常 魚鱗癬

常染色体劣性遺伝

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.  >> 翻訳 (Google)

861
(40.7%)

cranioectodermal dysplasia 4
----
頭蓋外胚葉異形成 4

反復性肺炎 外胚葉形成不全 腎症 骨髄細胞数増多

常染色体劣性遺伝

861
(40.7%)

dyskeratosis congenita, autosomal dominant 3
----
角化異常症, 先天性, 常染色体優性, 3

停留精巣 早発性毛髪白髪 白血球減少症 血小板減少

常染色体優性遺伝

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.  >> 翻訳 (Google)

863
(40.7%)

nephropathy, progressive tubulointerstitial, with cholestatic liver disease
----
腎症, 進行性尿細管間質性-胆汁うっ滞性肝疾患

胆汁うっ滞性肝疾患 腎症

常染色体劣性遺伝

863
(40.7%)

cholestasis, progressive familial intrahepatic, 4
----
胆汁うっ滞, 進行性家族性肝内4

肝不全 肝内胆汁うっ滞 肝細胞癌

常染色体劣性遺伝

Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.  >> 翻訳 (Google)

863
(40.7%)

nephronophthisis 18
----
ネフロン癆 18

ネフロン癆 胆汁うっ滞

常染色体劣性遺伝

Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.  >> 翻訳 (Google)

863
(40.7%)

nephronophthisis 16
----
ネフロン癆 16

肝線維症 胆汁うっ滞 腎不全

常染色体劣性遺伝

Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.  >> 翻訳 (Google)

863
(40.7%)

Senior-Loken syndrome 9
----
Senior-Loken 症候群9

ネフロン癆 肝線維症 胆汁うっ滞

常染色体劣性遺伝

Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.  >> 翻訳 (Google)

863
(40.7%)

MEDNIK syndrome
----
精神遅滞-腸症-難聴-末梢ニューロパチー-魚鱗癬-角皮症)

肝硬変 胆汁うっ滞 高い額

常染色体劣性遺伝

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).  >> 翻訳 (Google)

869
(40.4%)

ALG3-CDG
----
先天性グリコシル化異常症 Id 型 (CDG Id)

I 型 transferrin isoform プロフィール 二分した口蓋垂 嘔吐 小さい爪

常染色体劣性遺伝

A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).  >> 翻訳 (Google)

870
(40.3%)

body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
----
弾性線維性仮性黄色腫様疾患-多発性凝固因子欠損症

動脈硬化症 弛緩性皮膚 鼻出血

常染色体劣性遺伝

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.  >> 翻訳 (Google)

870
(40.3%)

osteogenesis imperfecta type 17
----
骨形成不全 XVII 型

Intraventricular hemorrhage 柔らかい皮膚 発語および言語発達遅延

常染色体劣性遺伝

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.  >> 翻訳 (Google)

870
(40.3%)

immunodeficiency 49
----
免疫不全49

両眼隔離 好酸球増多症 弛緩性皮膚 肺動脈狭窄

常染色体優性遺伝

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.  >> 翻訳 (Google)

870
(40.3%)

CHIME syndrome
----
コロボーマ-先天性心奇形-魚鱗癬型皮膚症-精神遅滞-耳介奇形症候群

Fallot 四徴症 尿管腎盂接合部閉塞 急性リンパ性白血病 掌蹠過角化症

常染色体劣性遺伝

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.  >> 翻訳 (Google)

870
(40.3%)

Rubinstein-Taybi syndrome due to CREBBP mutations
----
Rubinstein 症候群1

停留精巣 動脈管開存症 手掌横線 白血病

常染色体優性遺伝 Heterogeneous 孤発性

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.  >> 翻訳 (Google)

875
(40.2%)

primary immunodeficiency syndrome due to p14 deficiency
----
免疫不全, MAPBP 不活性化タンパク障害による

IgM欠乏症 好中球減少症 皮膚低色素

常染色体劣性遺伝

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.  >> 翻訳 (Google)

875
(40.2%)

Griscelli syndrome type 2
----
Griscelli 症候群 2 型

メラニン細胞のメラノソーム蓄積 反復性細菌感染症 血液貪食症 遅延型過敏の減少

常染色体劣性遺伝

Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.  >> 翻訳 (Google)

875
(40.2%)

X-linked Alport syndrome
----
Alport 症候群1, X連鎖性

腎炎 蛋白尿 血小板減少 魚鱗癬

X連鎖遺伝 X連鎖優性遺伝 Heterogeneous

X-linked form of Alport syndrome.  >> 翻訳 (Google)

875
(40.2%)

Lichtenstein syndrome
----
Lichtenstein 症候群

IgA欠乏症 好中球減少症 手掌横線

常染色体劣性遺伝

Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive.  >> 翻訳 (Google)

875
(40.2%)

nephrotic syndrome 14
----
ネフローゼ症候群14型

リンパ球減少症 蛋白尿 魚鱗癬

常染色体劣性遺伝

875
(40.2%)

Noonan syndrome 6
----
Noonan 症候群6

カフェオーレ斑 浮腫 若年性骨髄単球性白血病

常染色体優性遺伝

Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene.  >> 翻訳 (Google)

875
(40.2%)

Fanconi anemia complementation group I
----
Fanconi 貧血, 相補群 I

カフェオーレ斑 好中球減少症 架橋剤により誘発される染色体断裂

常染色体劣性遺伝

Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.  >> 翻訳 (Google)

875
(40.2%)

CBL-related disorder
----
Noonan 症候群様疾患 +/- 若年性若年性骨髄単球性白血病

カフェオーレ斑 リンパ性浮腫 若年性骨髄単球性白血病

常染色体優性遺伝

CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.  >> 翻訳 (Google)

883
(40.2%)

Fanconi anemia complementation group N
----
Fanconi 貧血, 相補群 N (FANCN)

カフェオーレ斑 再生不良性貧血 心室中隔欠損 架橋剤により誘発される染色体断裂

常染色体劣性遺伝

Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.  >> 翻訳 (Google)

884
(40.2%)

holocarboxylase synthetase deficiency
----
ホロカルボキシラーゼ欠損合成酵素欠損症

代謝性アシドーシス 嘔吐 皮膚発疹 血小板減少

常染色体劣性遺伝

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.  >> 翻訳 (Google)

884
(40.2%)

NAD(P)HX dehydratase deficiency
----
脳症, 進行性, 早期発症-脳浮腫+/-白質脳症, 2

嘔吐 大脳浮腫 汎血球減少症 皮膚発疹

常染色体劣性遺伝

884
(40.2%)

granulocytopenia with immunoglobulin abnormality
----
免疫不全59-低血糖

下痢 低ガンマグロブリン血症 反復性皮膚感染症 顆粒球減少症

常染色体劣性遺伝

884
(40.2%)

leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
----
白質脳症-関節炎-腸炎-低ガンマグロブリン血症 (LACH)

下痢 好中球減少症 湿疹 赤沈値上昇

常染色体劣性遺伝 X連鎖遺伝

884
(40.2%)

Pelger-Huet anomaly
----
Pelger-Huet 奇形

染色体分離の異常 湿疹 臍ヘルニア 血小板減少

常染色体優性遺伝

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.  >> 翻訳 (Google)

889
(40.2%)

Addison disease
----
副腎皮質機能低下, 家族性

チアノーゼ 低血糖 副腎低形成 嘔吐

常染色体劣性遺伝

Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI).  >> 翻訳 (Google)

889
(40.2%)

Riley-Day syndrome
----
遺伝性感覚および自律神経ニューロパチー III

嘔吐 発熱エピソード 糸球体硬化症 肢端チアノーゼ

常染色体劣性遺伝

A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.  >> 翻訳 (Google)

891
(40.0%)

immune deficiency disease
----
免疫不全症

IgM欠乏症 反復性細菌感染症 激症肝炎 胆管炎

常染色体劣性遺伝

891
(40.0%)

cystic fibrosis
----
嚢胞性線維症 (CF)

外分泌性膵不全 成長障害 (成長不全) 胆汁性肝硬変 脱水

常染色体劣性遺伝

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.  >> 翻訳 (Google)

891
(40.0%)

psoriasis 14, pustular
----
乾癬14, 膿疱性

溝舌 発熱 胆管炎

常染色体劣性遺伝

Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.  >> 翻訳 (Google)

891
(40.0%)

cerebrotendinous xanthomatosis
----
脳腱黄色腫症

コレステロール代謝の異常 白内障 胆石症

常染色体劣性遺伝

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.  >> 翻訳 (Google)

891
(40.0%)

renal cysts and diabetes syndrome
----
腎嚢胞-糖尿病症候群

子宮低形成 胆管異常 蛋白尿

常染色体優性遺伝

Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.  >> 翻訳 (Google)

891
(40.0%)

peroxisome biogenesis disorder 12A (Zellweger)
----
ペルオキシソーム生合成異常症12A (Zellweger)

胆石症 腎尿細管機能障害 高ビリルビン血症

常染色体劣性遺伝

891
(40.0%)

pancreatic hypoplasia-diabetes-congenital heart disease syndrome
----
心奇形, 先天性 , およびその他の先天奇形

糖尿病 胆管閉鎖 膵低形成 鼠径ヘルニア

常染色体優性遺伝

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).  >> 翻訳 (Google)

891
(40.0%)

X-linked intellectual disability-craniofacioskeletal syndrome
----
頭蓋顔骨格症候群

低カルシウム血症 停留精巣 胆嚢欠損

X連鎖劣性遺伝 X連鎖優性遺伝

X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.  >> 翻訳 (Google)

891
(40.0%)

Bardet-Biedl syndrome 1
----
Bardet-Biedl 症候群 1

小陰茎 糖尿病 胆管異常

常染色体劣性遺伝

A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13.  >> 翻訳 (Google)

900
(39.9%)

dyskeratosis congenita, autosomal recessive 5
----
角化異常症, 先天性, 常染色体劣性型, 5

低ガンマグロブリン血症 爪ジストロフィー 白血球減少症 結腸炎

常染色体優性遺伝 常染色体劣性遺伝

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.  >> 翻訳 (Google)