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Table 1 Evaluation of RDmap based on cases from publications

From: RDmap: a map for exploring rare diseases

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
  1. 1Rank means the ranking of the target disease in the searching results on RDmap based on the phenotypes’ similarity scores. If there are identical similarity scores, the ranking is only calculated by the number of better scores
  2. 2Sim. Score means the similarity between the target disease and the input phenotypes. It is range from 0 to 1. The smaller the value, the more similar it is