| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (32.7%) |
10826618 |
Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum. Al-Gazali LI, Bakir M, Hamid ZM, Nath R, Haas D. Clin Dysmorphol. 2000;9(2):93-7. |
| Talipes equinovarus Bowing of the long bones | ||
| Bone and Bones Congenital Hand Deformities Corpus Callosum Fatal Outcome Females Homo sapiens Infant, Newborn Ultrasonography | ||
| 1 (32.7%) |
9823491 |
Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. Sigaudy S, Moncla A, Fredouille C, Bourliere B, Lambert JC, Philip N. Clin Dysmorphol. 1998;7(4):257-62. |
| Bowing of the long bones | ||
| Adult Differential Diagnosis Females Genes, Recessive Homo sapiens Male Middle Aged Osteochondrodysplasias Pregnancy Syndrome Ultrasonography, Prenatal | ||
| 3 (21.2%) |
9674906 |
Schwartz-Jampel syndrome type 2 and Stuve-Wiedemann syndrome: a case for "lumping". Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Am J Med Genet. 1998;78(2):150-4. |
| Myotonia Skeletal dysplasia | ||
| Child Feeding and Eating Disorders of Childhood Follow-Up Studies Homo sapiens Myotonia Congenita Osteochondrodysplasias Respiratory Insufficiency Syndrome | ||
| 4 (17.5%) |
8728692 |
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D. J Med Genet. 1996;33(3):203-11. |
| Myotonia | ||
| Disease Progression Fatal Outcome Females Genes, Recessive Homo sapiens Infant, Newborn Male Osteochondrodysplasias Pregnancy United Arab Emirates |
Total: 44
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000478 | Abnormality of the eye | Very frequent (99-80%) |
| HP:0000504 | Abnormality of vision | Very frequent (99-80%) |
| HP:0000935 | Thickened cortex of long bones | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0000966 | Hypohidrosis | Very frequent (99-80%) |
| HP:0000975 | Hyperhidrosis | Very frequent (99-80%) |
| HP:0001954 | Recurrent fever | Very frequent (99-80%) |
| HP:0002459 | obsolete Dysautonomia | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003016 | Metaphyseal widening | Very frequent (99-80%) |
| HP:0003103 | Abnormal cortical bone morphology | Very frequent (99-80%) |
| HP:0003401 | Paresthesia | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0008872 | Feeding difficulties in infancy | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000211 | Trismus | Frequent (79-30%) |
| HP:0000632 | Lacrimation abnormality | Frequent (79-30%) |
| HP:0000938 | Osteopenia | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0001371 | Flexion contracture | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0001562 | Oligohydramnios | Frequent (79-30%) |
| HP:0001762 | Talipes equinovarus | Frequent (79-30%) |
| HP:0002098 | Respiratory distress | Frequent (79-30%) |
| HP:0002099 | Asthma | Frequent (79-30%) |
| HP:0002104 | Apnea | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002757 | Recurrent fractures | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0002987 | Elbow flexion contracture | Frequent (79-30%) |
| HP:0006380 | Knee flexion contracture | Frequent (79-30%) |
| HP:0007328 | Impaired pain sensation | Frequent (79-30%) |
| HP:0010298 | Smooth tongue | Frequent (79-30%) |
| HP:0012785 | Flexion contracture of finger | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Occasional (29-5%) |
| HP:0000821 | Hypothyroidism | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0006844 | Absent patellar reflexes | Occasional (29-5%) |
| HP:0008000 | Decreased corneal reflex | Occasional (29-5%) |
| HP:0100028 | Ectopic thyroid | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0006487 | Bowing of the long bones | 2 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0012385 | Camptodactyly | 1 |