Cone-shaped epiphysis

Symptom Information:

Symptom ID: HPO:0010579
Synonyms:
Cone-shaped epiphyses [HPO:0010579]
Cone shaped epiphysis [Orphanet:45780]
Cone-shaped epiphyses [OMIM:Cone-shaped epiphyses]
Cone epiphyses/epiphysis [Orphanet:45780]
Cone-shaped epiphyses (2nd-4th) [OMIM:Cone-shaped epiphyses (2nd-4th)]
Cone-shaped epiphyses (ankles) [OMIM:Cone-shaped epiphyses (ankles)]
Cone-shaped epiphyses (childhood) [OMIM:Cone-shaped epiphyses (childhood)]
Cone-shaped epiphyses (distal radii) [OMIM:Cone-shaped epiphyses (distal radii)]
Cone-shaped epiphyses (metacarpals and proximal phalanges) [OMIM:Cone-shaped epiphyses (metacarpals and proximal phalanges)]
Cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges) [OMIM:Cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)]
Cone-shaped epiphyses (middle phalanges) [OMIM:Cone-shaped epiphyses (middle phalanges)]
Cone-shaped epiphyses (phalanges) [OMIM:Cone-shaped epiphyses (phalanges)]
Cone-shaped epiphyses (proximal and distal tibia) [OMIM:Cone-shaped epiphyses (proximal and distal tibia)]
Cone-shaped epiphyses (proximal and middle phalanges) [OMIM:Cone-shaped epiphyses (proximal and middle phalanges)]
Cone-shaped epiphyses (proximal femur) [OMIM:Cone-shaped epiphyses (proximal femur)]
Cone-shaped epiphyses (proximal phalanges) [OMIM:Cone-shaped epiphyses (proximal phalanges)]
Cone-shaped epiphyses (toes 2,3, and 4) [OMIM:Cone-shaped epiphyses (toes 2,3, and 4)]
Quality:
Cross references:
Orphanet:45780 "Cone epiphyses/epiphysis" [Orphanet:45780]
OMIM: "Cone-shaped epiphyses" [OMIM:Cone-shaped epiphyses]
OMIM: "Cone-shaped epiphyses (2nd-4th)" [OMIM:Cone-shaped epiphyses (2nd-4th)]
OMIM: "Cone-shaped epiphyses (ankles)" [OMIM:Cone-shaped epiphyses (ankles)]
OMIM: "Cone-shaped epiphyses (childhood)" [OMIM:Cone-shaped epiphyses (childhood)]
OMIM: "Cone-shaped epiphyses (distal radii)" [OMIM:Cone-shaped epiphyses (distal radii)]
OMIM: "Cone-shaped epiphyses (metacarpals and proximal phalanges)" [OMIM:Cone-shaped epiphyses (metacarpals and proximal phalanges)]
OMIM: "Cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)" [OMIM:Cone-shaped epiphyses (metacarpals, thumbs, middle and distal phalanges)]
OMIM: "Cone-shaped epiphyses (middle phalanges)" [OMIM:Cone-shaped epiphyses (middle phalanges)]
OMIM: "Cone-shaped epiphyses (phalanges)" [OMIM:Cone-shaped epiphyses (phalanges)]
OMIM: "Cone-shaped epiphyses (proximal and distal tibia)" [OMIM:Cone-shaped epiphyses (proximal and distal tibia)]
OMIM: "Cone-shaped epiphyses (proximal and middle phalanges)" [OMIM:Cone-shaped epiphyses (proximal and middle phalanges)]
OMIM: "Cone-shaped epiphyses (proximal femur)" [OMIM:Cone-shaped epiphyses (proximal femur)]
OMIM: "Cone-shaped epiphyses (proximal phalanges)" [OMIM:Cone-shaped epiphyses (proximal phalanges)]
OMIM: "Cone-shaped epiphyses (toes 2,3, and 4)" [OMIM:Cone-shaped epiphyses (toes 2,3, and 4)]
Is a (Direct Parents):
Orphanet Abnormality of epiphysis morphology
HPO         Abnormality of epiphysis morphology
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of epiphysis morphology(HPO:0005930)
                   Cone-shaped epiphysis(HPO:0010579)
MedDRA:
Database Frequency: 54 / 7739
Resource:

All diseases associated with this symptom:

ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Acrocapitofemoral dysplasia (Orphanet:63446)
Acrodysostosis (Orphanet:950)
Acromesomelic dysplasia, Maroteaux type (Orphanet:40)
Acromicric dysplasia (Orphanet:969)
BRACHYDACTYLY, TYPE A3 (OMIM:112700)
Brachydactyly - arterial hypertension (Orphanet:1276)
Brachydactyly type A1 (Orphanet:93388)
Brachydactyly type C (Orphanet:93384)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
Floating-Harbor syndrome (Orphanet:2044)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Geleophysic dysplasia (Orphanet:2623)
Goldblatt syndrome (Orphanet:166272)
Jeune syndrome (Orphanet:474)
Langer-Giedion syndrome (Orphanet:502)
Léri-Weill dyschondrosteosis (Orphanet:240)
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES (OMIM:606772)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Kaitila type (Orphanet:166038)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type (Orphanet:85172)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Muenke syndrome (Orphanet:53271)
Multiple synostoses syndrome (Orphanet:3237)
Myhre syndrome (Orphanet:2588)
Nephronophthisis 3 (OMIM:604387)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Peripheral dysostosis (Orphanet:1795)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Poland syndrome (Orphanet:2911)
Postaxial tetramelic oligodactyly (Orphanet:2730)
Ruvalcaba syndrome (Orphanet:3121)
SECKEL SYNDROME 1 (OMIM:210600)
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION (OMIM:182255)
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS (OMIM:609616)
Saldino-Mainzer syndrome (Orphanet:140969)
Seckel syndrome (Orphanet:808)
Senior-Loken syndrome (Orphanet:3156)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Short-rib thoracic dysplasia 1 with or without polydactyly (OMIM:208500)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked spondyloepimetaphyseal dysplasia (Orphanet:93349)