| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (62.7%) |
23459408 |
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Clin Dysmorphol. 2013;22(3):109-14. |
| Lobulated tongue Short ribs Y-shaped metacarpals | ||
| Child Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Male Orofaciodigital Syndromes Polydactyly | ||
| 2 (57.6%) |
12686930 |
Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome. Lindeboom JA, Kroon FH, de Vires J, van den Akker HP. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003;95(4):458-62. |
| Lobulated tongue Brachydactyly Cleft lip | ||
| Child Females Follow-Up Studies Homo sapiens Mandibular Diseases Maxillary Diseases Odontogenic Cysts Orofaciodigital Syndromes Panoramic Radiography X-Ray Computed Tomography | ||
| 3 (55.7%) |
12000897 |
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E. J Craniofac Surg. 2002;13(2):321-6. |
| Median cleft lip Polydactyly | ||
| Females Genes, Recessive Homo sapiens Infant Japan Orofaciodigital Syndromes Syndactyly | ||
| 3 (55.7%) |
6686259 |
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome? Mattei JF, Ayme S. J Med Genet. 1983;20(6):433-5. |
| Median cleft lip Polydactyly | ||
| Child Congenital Hand Deformities Differential Diagnosis Diseases in Twins Females Hamartoma Homo sapiens Intellectual Disability Kidney Male Orofaciodigital Syndromes Pregnancy Psychomotor Disorders Syndrome Toes Tongue Neoplasms | ||
| 5 (49.1%) |
10521839 |
Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Balci S, Guler G, Kale G, Soylemezoglu F, Besim A. Prenat Diagn. 1999;19(9):827-31. |
| Natal tooth Polydactyly | ||
| Autopsy Females Genes, Recessive Gestational Age Homo sapiens Infant, Newborn Orofaciodigital Syndromes Ultrasonography, Prenatal | ||
| 5 (49.1%) |
10482880 |
Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Hsieh YC, Hou JW. Am J Med Genet. 1999;86(3):278-81. |
| Lobulated tongue Preaxial polydactyly | ||
| Endocardial Cushion Defects Homo sapiens Infant, Newborn Male Metacarpus Orofaciodigital Syndromes Phenotype | ||
| 7 (47.3%) |
9555586 |
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. Moerman P, Fryns JP. Genet Couns. 1998;9(1):39-43. |
| Hydrocephalus Short ribs Micromelia | ||
| Differential Diagnosis Fetal Death Homo sapiens Infant, Newborn Male Orofaciodigital Syndromes Phenotype Short Rib-Polydactyly Syndrome | ||
| 8 (43.2%) |
8723090 |
Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? Majewski E, Ozturk B, Gillessen-Kaesbach G. Am J Med Genet. 1996;63(1):74-9. |
| Hypospadias Short ribs | ||
| Adult Differential Diagnosis Females Heterozygote Homo sapiens Hydrocephalus Infant, Newborn Male Orofaciodigital Syndromes Polydactyly Syndrome Tongue | ||
| 8 (43.2%) |
3608220 |
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. Silengo MC, Bell GL, Biagioli M, Franceschini P. Clin Genet. 1987;31(5):331-6. |
| Short ribs | ||
| Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Infant Larynx Orofaciodigital Syndromes Osteochondrodysplasias Phenotype Short Rib-Polydactyly Syndrome | ||
| 10 (35.4%) |
24665281 (3943020) |
Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome? Shakiba M, Nezhad Bieglari H, Alaee MR. Iran J Child Neurol. 2012;6(4):51-4. |
| Diplopia Finger clinodactyly | ||
Total: 49
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000161 | Median cleft lip | Frequent (79-30%) |
| HP:0000190 | Abnormal oral frenulum morphology | Frequent (79-30%) |
| HP:0000199 | Tongue nodules | Frequent (79-30%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
| HP:0000685 | Hypoplasia of teeth | Frequent (79-30%) |
| HP:0001841 | Preaxial foot polydactyly | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0006042 | Y-shaped metacarpals | Frequent (79-30%) |
| HP:0006101 | Finger syndactyly | Frequent (79-30%) |
| HP:0006289 | Agenesis of central incisor | Frequent (79-30%) |
| HP:0010055 | Broad hallux | Frequent (79-30%) |
| HP:0010068 | Broad first metatarsal | Frequent (79-30%) |
| HP:0010100 | Complete duplication of hallux phalanx | Frequent (79-30%) |
| HP:0010297 | Bifid tongue | Frequent (79-30%) |
| HP:0011802 | Hamartoma of tongue | Frequent (79-30%) |
| HP:0011819 | Submucous cleft soft palate | Frequent (79-30%) |
| HP:0040019 | Finger clinodactyly | Frequent (79-30%) |
| HP:0000220 | Velopharyngeal insufficiency | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000405 | Conductive hearing impairment | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000506 | Telecanthus | Occasional (29-5%) |
| HP:0000679 | Taurodontia | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001162 | Postaxial hand polydactyly | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002789 | Tachypnea | Occasional (29-5%) |
| HP:0004987 | Mesomelic leg shortening | Occasional (29-5%) |
| HP:0005349 | Hypoplasia of the epiglottis | Occasional (29-5%) |
| HP:0005873 | Polysyndactyly of hallux | Occasional (29-5%) |
| HP:0006342 | Peg-shaped maxillary lateral incisors | Occasional (29-5%) |
| HP:0006436 | Shortening of the tibia | Occasional (29-5%) |
| HP:0006695 | Atrioventricular canal defect | Occasional (29-5%) |
| HP:0007768 | Central retinal vessel vascular tortuosity | Occasional (29-5%) |
| HP:0008947 | Infantile muscular hypotonia | Occasional (29-5%) |
| HP:0009826 | Limb undergrowth | Occasional (29-5%) |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | Occasional (29-5%) |
| HP:0011087 | Talon cusp | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
| HP:0100702 | Arachnoid cyst | Occasional (29-5%) |
| HP:0100874 | Thick hair | Occasional (29-5%) |
| HP:0410033 | Unilateral alveolar cleft of maxilla | Occasional (29-5%) |
| HP:0000050 | Hypoplastic male external genitalia | Very rare (4-1%) |
| HP:0000695 | Natal tooth | Very rare (4-1%) |
| HP:0002069 | Generalized tonic-clonic seizures | Very rare (4-1%) |
| HP:0009776 | Adactyly | Very rare (4-1%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0010442 | Polydactyly | 3 |
| HP:0000199 | Tongue nodules | 2 |
| HP:0000161 | Median cleft lip | 1 |
| HP:0000180 | Lobulated tongue | 1 |
| HP:0000456 | Bifid nasal tip | 1 |
| HP:0000695 | Natal tooth | 1 |
| HP:0000773 | Short ribs | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001762 | Talipes equinovarus | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005349 | Hypoplasia of the epiglottis | 1 |
| HP:0006042 | Y-shaped metacarpals | 1 |
| HP:0010665 | Bilateral coxa valga | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030043 | Hip subluxation | 1 |
| HP:0100258 | Preaxial polydactyly | 1 |
| HP:0410030 | Cleft lip | 1 |