Abnormal cortical bone morphology

Symptom Information:

Symptom ID: HPO:0003103
Synonyms:
Abnormal compact bone morphology [HPO:0003103]
Abnormality of cortical bone [HPO:0003103]
Cortical bone anomaly [Orphanet:45960]
Congenital anomaly of skeletal bone (disorder) [Orphanet:45960]
Congenital anomaly of skeletal bone [Orphanet:45960]
Cortical anomaly/thick bone cortical layer [Orphanet:45960]
Congenital skeletal malformation NOS [Orphanet:45960]
Congenital musculoskeletal anomaly [MedDRA:10062344]
Anomaly congenital musculoskeletal (NOS) [MedDRA:10062344]
Certain congenital musculoskeletal deformities [MedDRA:10062344]
Congenital muscle malformation NOS [MedDRA:10062344]
Congenital musculoskeletal abnorm [MedDRA:10062344]
Congenital musculoskeletal abnormality NOS [MedDRA:10062344]
Congenital musculoskeletal deformities of sternocleidomastoid muscle [MedDRA:10062344]
Congenital skeletal malformation NOS [MedDRA:10062344]
Muscle malformation [MedDRA:10062344]
Musculoskeletal congenital [MedDRA:10062344]
Musculoskeletal congenital anomaly [MedDRA:10062344]
Musculoskeletal congenital anomoly [MedDRA:10062344]
Other and unspecified congenital anomalies of musculoskeletal system [MedDRA:10062344]
Other congenital anomalies of ribs and sternum [MedDRA:10062344]
Other congenital musculoskeletal anomalies [MedDRA:10062344]
Other specified congenital anomalies of muscle, tendon, fascia and connective tissues [MedDRA:10062344]
Other specified congenital anomalies of muscle, tendon, fascia, and connective tissue [MedDRA:10062344]
Other specified congenital anomaly of muscle, tendon, fascia, and connective tissue [MedDRA:10062344]
Other specified congenital musculoskeletal anomalies [MedDRA:10062344]
Other specified nonteratogenic anomalies [MedDRA:10062344]
Other specified nonteratogenic anomaly [MedDRA:10062344]
Skeletal malformation [MedDRA:10062344]
Skeletal malformation NOS [MedDRA:10062344]
Quality:
Cross references:
Orphanet:45960 "Cortical anomaly/thick bone cortical layer" [Orphanet:45960]
UMLS:C0265509 "Congenital anomaly of skeletal bone" [Orphanet:45960]
Is a (Direct Parents):
MedDRA Musculoskeletal disorders congenital NEC
Orphanet Abnormal diaphysis morphology
HPO         Abnormal bone structure
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)
             Abnormal bone structure(HPO:0003330)
                Abnormal cortical bone morphology(HPO:0003103)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal disorders congenital NEC(MedDRA:10029513)
          Abnormal cortical bone morphology(HPO:0003103)
Database Frequency: 38 / 7739
Resource:

All diseases associated with this symptom:

Adamantinoma (Orphanet:55881)
Aspartylglucosaminuria (Orphanet:93)
Autosomal dominant osteosclerosis, Worth type (Orphanet:2790)
CK syndrome (Orphanet:251383)
Caffey disease (Orphanet:1310)
Camurati-Engelmann disease (Orphanet:1328)
Cranio-osteoarthropathy (Orphanet:1525)
Dysostosis, Stanescu type (Orphanet:1798)
Dysplastic cortical hyperostosis (Orphanet:2204)
Familial osteodysplasia, Anderson type (Orphanet:2769)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Gnathodiaphyseal dysplasia (Orphanet:53697)
Grant syndrome (Orphanet:2097)
Hereditary sensory and autonomic neuropathy type 2 (Orphanet:970)
Hyperostosis corticalis generalisata (Orphanet:3416)
Kenny-Caffey syndrome (Orphanet:2333)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal congenital contracture syndrome type 1 (Orphanet:1486)
Melorheostosis with osteopoikilosis (Orphanet:1879)
Metatropic dysplasia (Orphanet:2635)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Multiple epiphyseal dysplasia (Orphanet:251)
Oculodentodigital dysplasia (Orphanet:2710)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteomesopyknosis (Orphanet:2777)
Osteopetrosis (Orphanet:2781)
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Pachydermoperiostosis (Orphanet:2796)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Primary hyperoxaluria (Orphanet:416)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Sakati-Nyhan syndrome (Orphanet:3128)
Schinzel-Giedion syndrome (Orphanet:798)
Sclerosteosis (Orphanet:3152)
Stüve-Wiedemann syndrome (Orphanet:3206)
Suarez-Stickler syndrome (Orphanet:166277)
Weismann-Netter syndrome (Orphanet:3344)