| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (59.8%) |
19017386 (2600790) |
Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature. Kaissi AA, Roetzer K, Klaushofer K, Grill F. Cases J. 2008;1(1):324. |
| Macrocephaly Rhizomelia | ||
| 2 (45.7%) |
2918547 |
Spondyloenchondrodysplasia. Menger H, Kruse K, Spranger J. J Med Genet. 1989;26(2):93-9. |
| Platyspondyly Micromelia | ||
| Child Homo sapiens Male Osteochondrodysplasias | ||
| 3 (34.8%) |
30078244 |
[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review]. Zhong LQ, Wang L, Song HM, Wang W, Wei M, He YY. Zhonghua Er Ke Za Zhi. 2018;56(8):611-616. |
| Platyspondyly Metaphyseal dysplasia | ||
| ACP5 GH1 | ||
| c|DUP|798|C| c|SUB|G|716|A p|FS|S|267|L|20 p|SUB|G|239|D | ||
| Autoimmune Diseases Child Females Homo sapiens Immunologic Deficiency Syndromes Lupus Erythematosus, Systemic Osteochondrodysplasias | ||
| 4 (32.7%) |
28740483 (5502255) |
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone. Utsumi T, Okada S, Izawa K, Honda Y, Nishimura G, Nishikomori R, Okano R, Kobayashi M. Front Endocrinol (Lausanne). 2017;8:157. |
| Skeletal dysplasia Metaphyseal dysplasia | ||
| ACP5 GH1 | ||
| c|SUB|A|736-2|C p|SUB|R|176|X | ||
| 4 (32.7%) |
26346816 (4562156) |
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene. Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA. Pediatr Rheumatol Online J. 2015;13(1):37. |
| Spasticity Skeletal dysplasia Metaphyseal dysplasia | ||
| ACP5 | ||
| rs1025967277 rs369804864 rs781050795 rs879255600 | ||
| Acid Phosphatase Autoimmune Diseases Bone Diseases Child Females Homo sapiens Immunologic Deficiency Syndromes Inflammation Isoenzymes Magnetic Resonance Imaging Muscle Spasticity Mutation Osteochondrodysplasias X-Ray Computed Tomography | ||
| 4 (32.7%) |
15602086 |
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation. Bayar A, Acun C, Dursun A, Verhoeven N, Bonafe L, Keser S, Superti-Furga A. Clin Dysmorphol. 2005;14(1):7-11. |
| Waddling gait Rickets Metaphyseal dysplasia | ||
| Glutarates Homo sapiens Infant Male Osteochondrodysplasias | ||
| 7 (23.3%) |
30558059 |
Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports. Hong SW, Huh KH, Lee JK, Kang JH. Medicine (Baltimore). 2018;97(50):e13644. |
| Arthralgia Cervical platyspondyly | ||
| Aftercare Arthralgia Autoimmune Diseases Conservative Treatment Craniofacial Abnormalities Females Homo sapiens Lupus Erythematosus, Systemic Male Missense Mutation Osteochondrodysplasias Temporomandibular Joint X-Ray Computed Tomography | ||
| 7 (23.3%) |
27718324 |
Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations. Sacri AS, Bruwier A, Baujat G, Breton S, Blanche S, Briggs TA, Bader-Meunier B. Pediatr Blood Cancer. 2017;64(2):306-310. |
| Platyspondyly | ||
| ACP5 | ||
| rs1025967277 rs781050795 rs781199182 | ||
| Age of Onset Alleles Autoimmune Diseases Child Child, Preschool Females Homo sapiens Male Mutation Osteochondrodysplasias | ||
| 7 (23.3%) |
23053755 |
Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV). Al Kaissi A, Ben Chehida F, Ben Ghachem M, Klaushofer K, Grill F. Eur Spine J. 2013;22 Suppl 3:S409-15. |
| Platyspondyly | ||
| Age of Onset Ankylosis Autoimmune Diseases Child Facies Homo sapiens Male Osteochondrodysplasias Spinal Diseases | ||
| 7 (23.3%) |
21980854 |
Spondyloenchondrodysplasia: a rare cause of short stature. Yesiltepe-Mutlu G, Ozsu E, Cizmecioglu FM, Alanay Y, Hatun S. Turk J Pediatr. 2011;53(4):464-6. |
| Platyspondyly | ||
| Autoimmune Diseases Body Height Child Differential Diagnosis Homo sapiens Male Osteochondrodysplasias |
Total: 11
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0002808 | Kyphosis | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003307 | Hyperlordosis | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0008905 | Rhizomelia | Very frequent (99-80%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0005930 | Abnormality of epiphysis morphology | Frequent (79-30%) |
| HP:0008818 | Large iliac wings | Frequent (79-30%) |
Total: 9
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 5 |
| HP:0002958 | Immune dysregulation | 3 |
| HP:0000926 | Platyspondyly | 2 |
| HP:0002135 | Basal ganglia calcification | 2 |
| HP:0004322 | Short stature | 2 |
| HP:0003150 | Glutaric aciduria | 1 |
| HP:0005701 | Multiple enchondromatosis | 1 |
| HP:0030038 | Enchondroma | 1 |
| HP:0031013 | Ankylosis | 1 |