| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (21.2%) |
894410 |
The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. Robinow M, Johanson AJ, Smith TH. J Pediatr. 1977;91(3):417-21. |
| Skeletal dysplasia | ||
| Bone Diseases, Developmental Child, Preschool Dwarfism Homo sapiens Intellectual Disability Male Sclerosis Syndrome |
Total: 58
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000239 | Large fontanelles | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000270 | Delayed cranial suture closure | Very frequent (99-80%) |
| HP:0000303 | Mandibular prognathia | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000337 | Broad forehead | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000453 | Choanal atresia | Very frequent (99-80%) |
| HP:0000682 | Abnormality of dental enamel | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001582 | Redundant skin | Very frequent (99-80%) |
| HP:0002684 | Thickened calvaria | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003103 | Abnormal cortical bone morphology | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0004279 | Short palm | Very frequent (99-80%) |
| HP:0004437 | Cranial hyperostosis | Very frequent (99-80%) |
| HP:0005465 | Facial hyperostosis | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0006101 | Finger syndactyly | Very frequent (99-80%) |
| HP:0006660 | Aplastic clavicle | Very frequent (99-80%) |
| HP:0007495 | Prematurely aged appearance | Very frequent (99-80%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Very frequent (99-80%) |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | Very frequent (99-80%) |
| HP:0011001 | Increased bone mineral density | Very frequent (99-80%) |
| HP:0011002 | Osteopetrosis | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000036 | Abnormality of the penis | Frequent (79-30%) |
| HP:0000039 | Epispadias | Frequent (79-30%) |
| HP:0000047 | Hypospadias | Frequent (79-30%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000614 | Abnormal nasolacrimal system morphology | Frequent (79-30%) |
| HP:0001163 | Abnormality of the metacarpal bones | Frequent (79-30%) |
| HP:0001167 | Abnormality of finger | Frequent (79-30%) |
| HP:0003070 | Elbow ankylosis | Frequent (79-30%) |
| HP:0010628 | Facial palsy | Frequent (79-30%) |
| HP:0012471 | Thick vermilion border | Frequent (79-30%) |
| HP:0100541 | Femoral hernia | Frequent (79-30%) |
| HP:0000135 | Hypogonadism | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000176 | Submucous cleft hard palate | Occasional (29-5%) |
| HP:0000193 | Bifid uvula | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001331 | Absent septum pellucidum | Occasional (29-5%) |
| HP:0001376 | Limitation of joint mobility | Occasional (29-5%) |
| HP:0001804 | Hypoplastic fingernail | Occasional (29-5%) |
| HP:0001812 | Hyperconvex fingernails | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002705 | High, narrow palate | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0003241 | External genital hypoplasia | Occasional (29-5%) |
Total: 0
| HPO ID | Term | # of case reports |
|---|