C0015397 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of the eye
|
211 |
C0878659 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
|
Growth abnormality
|
77 |
C0008925 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
syndrome; physical disorder
|
|
44 |
C2020284 |
Stickler syndrome, type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
5 |
C4520892 |
Otospondylomegaepiphyseal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
2 |
C0220685 |
Achondrogenesis type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
C4551562 |
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C0410480 |
Avascular Necrosis of Femur Head
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C1836683 |
Czech dysplasia, metatarsal type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
|
|
1 |
C1851536 |
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
genetic disease
|
|
1 |
C0265279 |
Kniest dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
C0023234 |
Legg-Calve-Perthes Disease
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
C0432214 |
Namaqualand hip dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C1835437 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
1 |
C2745959 |
Spondyloepiphyseal dysplasia, congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
1 |
C4225273 |
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
|
disease |
|
Disease or Syndrome
|
|
|
1 |
C0796173 |
Spondyloperipheral dysplasia short ulna
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |
C1836080 |
Stickler Syndrome, Type I, Nonsyndromic Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
|
|
1 |
C0700635 |
Strudwick syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
Abnormality of the skeletal system
|
1 |
C1852989 |
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
|
|
1 |