• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: أمراض نادرة, أمراض العظام, أمراض وراثية, نقص المستقبلة على سطح الخلية...

سوء التغذية الغضروفي · لاتصنع الغضروف · الحثل الغضروفي · ودانة · حثل غضروفي

الودانة أو لاتَصَنُّع العضروف أو الدحدحة أو عجز النمو الغضروفي أو نقص تعظم الكراديس‏ هو مرض وراثي للهيكل العظمي، حيث يكون هناك تعظم غضروفي باطني ناتج عن التقزم. Wikipedia

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سوء التغذية الغضروفي أو الحثل الغضروفي يشير إلى اضطراب الهيكل العظمي الناجم عن واحدة من الطفرات الوراثية التي لا تعد ولا تحصى والتي يمكن أن تؤثر على تطور الغضروف. Wikipedia

IS A

اضطراب جيني • مرض نادر

خلل تنسج عظمي غضروفي • عظم

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Fibroblast growth factor receptor 3

HAS PHENOTYPE

قزامة

HEALTH SPECIALTY

علم الوراثة الطبية

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: 遗传病, 生长障碍, 细胞表面受体缺陷

软骨发育不全 · 软骨发育不全症 · 软骨发育不全症

软骨发育不全症是一种显性遗传病，患者位於第四对染色体上基因「纤维芽细胞生长因子第三号接受体」出现缺陷，引致骨骼发育不良，身材极度矮小、鼻梁塌陷、脊椎弯曲、手指脚趾粗短、下肢较短且常呈Ｏ型腿等现象，大多数患者的智能完全正常。 Wikipedia

IS A

遗传病 • 罕见病

骨軟骨發育不全 • 骨头

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Fibroblast growth factor receptor 3

HAS PHENOTYPE

侏儒症

HEALTH SPECIALTY

醫學遺傳學

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Growth disorders, Skeletal disorders, Articles with short description, Autosomal recessive disorders...

achondroplasia · chondrodystrophy · osteosclerosis congenita · achondroplasty · osteosclerosis

An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism WordNet

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An inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism WordNet 2020

Achondroplasia is a genetic disorder whose primary feature is dwarfism. Wikipedia

Chondrodystrophy refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. Wikipedia

Osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones Wikidata

The genetic disorder. Wiktionary (translation)

A genetic disorder, the most common form of short limb dwarfism. Wiktionary

A skeletal disorder caused by various genetic mutations, affecting the development of cartilage. Wiktionary

An increase in bone density. Wiktionary

IS A

genetic disease • Rare disease

osteochondrodysplasia • bone

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Fibroblast growth factor receptor 3

HAS PHENOTYPE

dwarfism

HEALTH SPECIALTY

Medical genetics

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Ostéochondrodysplasies constitutionnelles, Maladie constitutionnelle de l'os, Maladie génétique

achondroplasie · chondrodystrophie

L'achondroplasie est une maladie constitutionnelle de l'os donnant un nanisme avec raccourcissement surtout de la racine des membres et un visage caractéristique. Wikipedia

IS A

Maladie génétique • Maladie rare

ostéochondrodysplasie • os

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

FGFR3

HAS PHENOTYPE

nanisme

HEALTH SPECIALTY

Génétique médicale

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Krankheitsbild in Orthopädie und Unfallchirurgie, Fehlbildung, Erbkrankheit, Kleinwuchs...

Achondroplasie · Chondrodystrophie · Chondrodysplasie · Chondrodystrophia fetalis

Die Achondroplasie ist die häufigste Form des genetisch bedingten Kleinwuchses. Wikipedia

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ICS-10-Code der Wachstumskrankheit Wikipedia (disambiguation)

Krankheit, Form der Kleinwüchsigkeit Wikidata

IS A

Erbkrankheit • Seltene Krankheit

Skelettdysplasie • Knochen

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

FGFR3

HAS PHENOTYPE

Kleinwuchs

HEALTH SPECIALTY

medizinische Genetik

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Σκελετικές παθήσεις, Γενετικές διαταραχές

Αχονδροπλασία

Η αχονδροπλασία είναι μια κυρίαρχη γενετική διαταραχή που συχνά προκαλείται από τον νανισμό. Wikipedia

IS A

Γενετική διαταραχή • σπάνια ασθένεια

osteochondrodysplasia • οστό

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Fibroblast growth factor receptor 3

HAS PHENOTYPE

dwarfism

HEALTH SPECIALTY

ιατρική γενετική

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: קטגוריה, מומים מולדים ומחלות כרומוזומליות, אורתופדיה, מומים מולדים במערכת השריר-שלד

אכונדרופלזיה · היפוכונדרופלזיה

אכונדרופלזיה היא מחלת שלד תורשתית הגורמת לגמדות הנגרמת כתוצאה ממוטציה גנטית. Wikipedia

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מחלת שלד גנטית Wikidata

IS A

פגם גנטי • מחלה יתומה

chondrodysplasia • עצם

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Fibroblast growth factor receptor 3

HAS PHENOTYPE

גמדות

HEALTH SPECIALTY

גנטיקה רפואית

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22

ऐकोन्ड्रोप्लेजिया

Achondroplasia बौनापन एक प्रमुख अनुवांशिक विकार है जो बौनेपन का आम कारण है Achondroplastic dwarfs का कद छोटा होता है, एक वयस्क की ऊंचाई १३१ सेमी होती है पुरुषों के लिए और 123 सेमी महिलाओं के लिए। व्याप्ति लगभग 1 में 25,000 है। == कारण == बौनापन fibroblast वृद्धि कारक के {4रिसेप्टर{/4} जीन ३ में एक Autosomal प्रमुख उत्परिवर्तन का परिणाम है जो एक नरम हड्डी विषमता का कारण बनता है। सामान्य परिस्थितियों में, FGFR3 विकास नियामक प्रभाव पर हड्डी नकारात्मक है एक. Wikipedia

IS A

आनुवंशिक रोग • विरल रोग

osteochondrodysplasia • अस्थि

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Fibroblast growth factor receptor 3

HAS PHENOTYPE

बौनापन

HEALTH SPECIALTY

चिकित्सा आनुवांशिकी

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Malattie genetiche, Pediatria

acondroplasia

L’acondroplasia è un disordine ereditario autosomico dominante a penetranza completa, letale allo stato omozigote. Wikipedia

IS A

Malattia genetica • Malattia rara

osteocondrodisplasia • osso

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

FGFR3

HAS PHENOTYPE

nanismo

HEALTH SPECIALTY

Genetica clinica

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: 遺伝子疾患, 希少疾患

軟骨無形成症 · 軟骨形成不全症

軟骨無形成症は小人症の原因となる遺伝子疾患の一つである。 Wikipedia

IS A

遺伝子疾患 • 希少疾患

軟骨異形成 • 骨

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

線維芽細胞増殖因子受容体3

HAS PHENOTYPE

小人症

HEALTH SPECIALTY

遺伝医学

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Наследственные болезни

Ахондроплазия · ахондроплази́я · Болезнь Парро-Мари · Врожденная хондродистрофия · Диафизарная аплазия

Ахондроплази́я — известное с древности наследственное заболевание человека, проявляющееся в нарушении процессов энхондрального окостенения на фоне нормальных эпостального и периостального окостенений, что ведет к карликовости за счет недоразвития длинных костей; характеризуется наличием врождённых аномалий, в частности врождённого стеноза позвоночного канала. Wikipedia

IS A

наследственное заболевание • Редкие заболевания

osteochondrodysplasia • кость

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

Рецептор фактора роста фибробластов 3

HAS PHENOTYPE

Карлик

HEALTH SPECIALTY

Медицинская генетика

• bn:00000889n • NOUN • Concept • Updated on 2021/02/22 • Categories: Enfermedades congénitas, Enfermedades hereditarias, Enfermedades genéticas, Enfermedades raras

acondroplasia · Nanismo acondroplasico · Nanismo acondroplásico

La acondroplasia es una displasia ósea ocasionada por un trastorno genético y la principal causa de enanismo. Wikipedia

More definitions

Enfermedad genética con manifestaciones clínicas óseas Wikidata

IS A

enfermedad genética • Enfermedad rara

Osteocondrodisplasia • hueso

HAS KIND

Severe achondroplasia with developmental delay and acanthosis nigricans

GENETIC ASSOCIATION

FGFR3

HAS PHENOTYPE

enanismo

HEALTH SPECIALTY

Genética médica

EXPLORE NETWORK

Translations

سوء التغذية الغضروفي, لاتصنع الغضروف, الحثل الغضروفي, ودانة, حثل غضروفي, قصر القامة, تصلب العظم, تصلب العظم الخلقي

软骨发育不全, 软骨发育不全症, 软骨发育不全症, achondroplasty, chondrodystrophy, 骨硬化先天性

achondroplasia, chondrodystrophy, osteosclerosis congenita, achondroplasty, osteosclerosis, achondroplastic dwarfism, achondroplastic physique, chondrodystrophia, Achondraplasia, Achondrodysplasia, Achondroplastic, Achrondroplasia, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf, achondroplastic, Perosis

achondroplasie, chondrodystrophie, achondroplasty, ostéosclérose, ostéosclérose congénitale

achondroplasie, chondrodystrophie, chondrodysplasie, chondrodystrophia fetalis, achondroplasty, osteosklerose, osteosklerose congenita

αχονδροπλασία, achondroplasty, chondrodystrophy, οστεοσκλήρυνση, συγγενής οστεοσκλήρυνση

אכונדרופלזיה, היפוכונדרופלזיה, אכונדרופלסיה, achondroplasty, chondrodystrophy, osteosclerosis, osteosclerosis congenita

ऐकोन्ड्रोप्लेजिया, achondroplasia, achondroplasty, osteosclerosis, osteosclerosis जन्मजात, उपास्थिदुष्पोषण, भ्रूणास्थिशोथ

acondroplasia, achondroplasty, condrodistrofia, osteosclerosi, osteosclerosi congenita

軟骨無形成症, 軟骨形成不全症, 軟骨形成不全, achondroplasty, 先天性骨硬化, 軟骨形成異常, 軟骨発育不全

ахондроплазия, ахондроплази́я, болезнь парро-мари, врожденная хондродистрофия, диафизарная аплазия, achondroplasty, ахондроплазией, врожденный остеосклероз, остеосклероз, хондродистрофия

acondroplasia, nanismo acondroplasico, nanismo acondroplásico, achondroplasty, condrodistrofia, osteosclerosis, osteosclerosis congénita