Table 1 Evaluation of RDmap based on cases from publications
No | Author et al. Year | Disease (OMIM) | Phenotypes | Rank1 | Sim. Score2 |
|---|---|---|---|---|---|
1 | Al-Owain et al. 2010 [24] | Congenital disorder of glycosylation (OMIM 603147) | HP:0025356 Psychomotor retardation/Psychomotor HP:0001252 Muscular hypotonia HP:0001644 Dilated cardiomyopathy HP:0001250 Seizures HP:0000486 Strabismus HP:0006610 Wide intermammillary distance | 6 | 0.0625 |
2 | Böhm et al.2010 [25] | Centronuclear myopathies (OMIM 255200) | HP:0009073 Progressive proximal muscle weakness HP:0000297 Facial hypotonia HP:0000508 Ptosis HP:0000602 Ophthalmoplegia HP:0001315 Reduced tendon reflexes HP:0001256 Intellectual disability, mild | 4 | 0.0486 |
3 | Acién et al. 2010 [26] | Mayer-Rokitansky-Küster-Hauser syndrome (OMIM 277000) | HP:0002089 Pulmonary hypoplasia HP:0000122 Unilateral renal agenesis HP:0000151 Aplasia of the uterus HP:0008726 Hypoplasia of the vagina | 4 | 0.0937 |
4 | Mejia-Gaviria et al. 2010 [27] | Hereditary hypophosphatemic rickets with hypercalciuria (OMIM 241530) | HP:0002148 Hypophosphatemia HP:0002150 Hypercalciuria | 1 | 0 |
5 | Joy et al. 2007 [28] | Alström syndrome (OMIM 203800) | HP:0000662 Night blindness HP:0000618 Blindness HP:0012330 Pyelonephritis HP:0000822 Hypertension HP:0000819 Diabetes mellitus HP:0000510 Retinitis pigmentosa HP:0000518 Cataract | 1 | 0.0535 |
6 | Zhu et al. 2018 [29] | Cleidocranial dysplasia (OMIM 119600) | HP:0000684 Delayed eruption of teeth HP:0000164 Abnormality of the teeth HP:0000316 Hypertelorism HP:0011069 Increased number of teeth | 1 | 0 |
7 | Zamel et al. 2008 [30] | Abetalipoproteinemia (OMIM 200100) | HP:0002630 Fat malabsorption HP:0001251 Ataxia HP:0001324 Muscle weakness HP:0001315 Reduced tendon reflexes | 4 | 0.0416 |
8 | Vroegindeweij et al. 2020 [31] | Aceruloplasminemia (OMIM 604290) | HP:0001935 Microcytic anemia HP:0001260 Dysarthria HP:0001288 Gait disturbance HP:0000819 Diabetes mellitus HP:0001903 Anemia HP:0001300 Parkinsonism | 1 | 0.0416 |
9 | Zhou et al. 2018 [32] | Lymphangioleiomyomatosis (OMIM 606690) | HP:0100749 Chest pain HP:0002094 Dyspnea HP:0002107 Pneumothorax | 1 | 0 |
10 | Dias et al. 2016 [33] | Wolcott–Rallison syndrome (OMIM 226980) | HP:0006554 Acute hepatic failure HP:0001298 Encephalopathy HP:0000083 Renal insufficiency HP:0002654 Multiple epiphyseal dysplasia | 1 | 0.0208 |
11 | Valayannopoulos et al. 2010 [34] | Mucopolysaccharidosis type 6 (OMIM 253200) | HP:0000280 Coarse facial features HP:0000470 Short neck HP:0000158 Macroglossia HP:0002808 Kyphosis HP:0012471 Thick vermilion border | 1 | 0.0083 |
12 | Biesecker 2010 [35] | Greig cephalopolysyndactyly syndrome (OMIM 175700) | HP:0000256 Macrocephaly HP:0011304 Broad thumb HP:0001159 Syndactyly HP:0001162 Postaxial hand polydactyly HP:0005873 Polysyndactyly of hallux | 1 | 0.016 |
13 | Germain 2010 [36] | Fabry disease (OMIM 301500) | Angiokeratoma (HP:0001014) | 1 | 0 |
14 | Drera et al. 2009 [37] | Loeys-Dietz syndrome (OMIM 609192) | Camptodactyly of finger (HP:0100490) Ulnar deviation of the hand or fingers of the hand (HP:0001193) Bilateral talipes equinovarus (HP:0001776) Blue sclerae (HP:0000592) Microretrognathia (HP:0000308) High palate (HP:0000218) Bifid uvula (HP:0000193) | 1 | 0.0628 |
15 | Reibel et al. 2009 [38] | Hypophosphatasia (OMIM 146300) | Recurrent fractures (HP:0002757) Craniosynostosis (HP:0001363) Premature loss of teeth (HP:0006480) | 1 | 0.0138 |
16 | Sarfati et al. 2015 [39] | Kallmann syndrome (OMIM 308700) | Oligomenorrhea (HP:0000876) Breast hypoplasia (HP:0003187) Anosmia (HP:0000458) Hearing impairment (HP:0000365) Reduced number of teeth (HP:0009804) | 1 | 0.0249 |
17 | Weisfeld-Adams et al. 2013 [40] | Chédiak–Higashi syndrome (OMIM 214500) | Lower limb muscle weakness (HP:0007340) Dementia (HP:0000726) Ataxia (HP:0001251) Hypermetric saccades (HP:0007338) Bradykinesia (HP:0002067) Periodontitis (HP:0000704) | 4 | 0.0972 |
18 | Mowat et al. 2003 [41] | Mowat–Wilson syndrome (OMIM 235730) | Open mouth (HP:0000194) Abnormality of the eyebrow (HP:0000534) Frontal bossing (HP:0002007) Deeply set eye (HP:0000490) Wide nasal bridge (HP:0000431) Strabismus (HP:0000486) | 1 | 0 |
19 | Chrzanowska et al. 2012 [42] | Nijmegen breakage syndrome (OMIM 251260) | Microcephaly (HP:0000252) Sloping forehead (HP:0000340) Retrognathia (HP:0000278) Macrotia (HP:0000400) Bulbous nose (HP:0000414) | 1 | 0.0116 |
20 | Marshall et al. 2013 [43] | Wolfram syndrome (OMIM 222300) | Diabetes mellitus (HP:0000819) Optic atrophy (HP:0000648) Diabetes insipidus (HP:0000873) Hearing impairment (HP:0000365) Gastroesophageal reflux (HP:0002020) | 1 | 0.0333 |