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Gene: Papss2 MGI:1330223

Gene Summary

Name:

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Synonyms:

1810018P12Rik, Sk2, Atpsk2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal limb morphology	Papss2^em1(IMPC)Bay	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Papss2^em1(IMPC)Bay	HOM	Early adult	0.00
increased cornea thickness	Papss2^em1(IMPC)Bay	HET	Early adult	1.41×10^-05
protruding tongue	Papss2^em1(IMPC)Bay	HOM	E18.5	0.00
abnormal facial morphology	Papss2^em1(IMPC)Bay	HOM	E18.5	0.00

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Electrocardiogram (ECG)

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Human diseases caused by Papss2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Papss2 (1 diseases)
Human diseases predicted to be associated with Papss2 (1021 diseases)

The table below shows human diseases associated to Papss2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes		Brachydactyly, Acne, Lower limb undergrowth, Bowing of the legs	OMIM:612847

The table below shows human diseases predicted to be associated to Papss2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation	ORPHA:2380
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci...	ORPHA:1416
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,...	OMIM:600969
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Metachondromatosis	Multiple enchondromatosis, Bowing of the long bones, Abnormal joint morphology	OMIM:156250
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Osteoarthritis Susceptibility 3	Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j...	OMIM:607850
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Relative macrocephaly, Tapered finger, Long fingers, Dental malocclusion, ...	OMIM:618292
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Short stature, Micrognathia, Carious teeth, Mic...	OMIM:613684
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Aplasia Cutis Congenita	Prolonged bleeding time, Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density	ORPHA:1114
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora...	OMIM:132400
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middle phalanx of finger, Abnorm...	ORPHA:63442
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Short metacarpal, Short stature, Camptodactyly of finger, ...	OMIM:612350
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Dental maloccl...	ORPHA:1858
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa...	ORPHA:1822
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ...	OMIM:615314
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Pathologic fracture	OMIM:614569
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Short ...	ORPHA:79106
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys...	OMIM:600204
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges...	OMIM:602849
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Abnormal fibula mor...	ORPHA:85198
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ...	OMIM:614201
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Open bite, Dental mal...	ORPHA:61
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp...	ORPHA:86820
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Three M Syndrome 2	Delayed eruption of teeth, Relative macrocephaly, Severe short stature, Short stature, Small for ...	OMIM:612921
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu...	OMIM:608940
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads	OMIM:271600
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Sho...	OMIM:618363
Seckel Syndrome 1	Ivory epiphyses, Sandal gap, Abnormal finger flexion crease, Dental crowding, Selective tooth age...	OMIM:210600
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Abnormal epiphysis morphology	ORPHA:93283
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion, Short stature, Microcephaly	OMIM:615541
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Mulibrey Nanism	Dental crowding, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal si...	OMIM:253250
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Toe syndactyly, Short stature, Camptodactyly of finger, Mic...	ORPHA:1327
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology	ORPHA:2206
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Clinodactyly, Radial deviation of finger	OMIM:188025
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Club...	ORPHA:1525
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Short toe, Osteoarthritis, Abnormality of the elbow, Abn...	ORPHA:429
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Short st...	ORPHA:2980
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Microcephaly, Open bite, Dental...	ORPHA:3079
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal ...	OMIM:190350
Spondylosis, Cervical	Osteoarthritis, Spina bifida occulta	OMIM:184300
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radial deviation of the ...	ORPHA:1388
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem...	ORPHA:99642
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Larsen-Like Syndrome	Short stature, Wide anterior fontanel, Dental malocclusion, Cleft palate, Radial deviation of the...	OMIM:608545
Momo Syndrome	Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D...	ORPHA:2563
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ...	OMIM:601957
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Short...	ORPHA:93351
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ...	OMIM:208230
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Diastrophic Dysplasia	Hip contracture, Small for gestational age, Costal cartilage calcification, Flattened epiphysis, ...	OMIM:222600
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Dental malocclusion, Sho...	ORPHA:2471
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Glycoprotein Storage Disease	Gout	OMIM:232900
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ...	OMIM:257850
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Short stature, Small for gestational age, Micrognathia, M...	OMIM:610883
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Down Syndrome	Aganglionic megacolon, Sandal gap, Protruding tongue, Abnormality of the dentition, Thick lower l...	ORPHA:870
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdonti...	ORPHA:251028
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Decreased body weight, Short stature, Shoulder flexion contracture,...	OMIM:619110
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Proximal placement of thumb, Microcephaly, Dental malocclusion, Narro...	OMIM:617883
Acromicric Dysplasia	Short metacarpal, Severe short stature, Narrow mouth, Deep philtrum, Thick lower lip vermilion, C...	OMIM:102370
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine...	OMIM:200990
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis	OMIM:184840
Harrod Syndrome	Arachnodactyly, Microcephaly, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic ...	ORPHA:2115
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness	OMIM:604864
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve...	OMIM:612938
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:155100
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal...	OMIM:271650
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Cleft palate, Bowing of the arm, Retro...	OMIM:249710
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral...	OMIM:602111
Intermediate Osteopetrosis	Abnormal dental morphology, Cortical sclerosis, Abnormality of the dentition, Generalized osteosc...	ORPHA:210110
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Short stature, Short toe, Pier...	OMIM:617877
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Periarticular soft-tissue mass, Hyperextensibility at wrists, Synovitis, Rec...	OMIM:601492
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Prolonged bleeding time, Bowing of the long bones, Osteopenia, Recurrent fract...	OMIM:616229
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Tapered finger, Wide mouth, High palate, Talipes e...	OMIM:618580
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:608404
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Short stature, Decreased fibular...	OMIM:619489
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Dental malocclusion, Widely-spaced maxillar...	OMIM:619719
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Epistaxis...	OMIM:187900
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior o...	ORPHA:3473
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature	OMIM:616108
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg...	OMIM:139090
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b...	ORPHA:169805
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Macrocephaly,...	OMIM:157980
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Intestinal malrotation, Overlapping toe, Protruding tongue, Camptodacty...	OMIM:300963
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Kabuki Syndrome 2	Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Microcephaly, Lower lip p...	OMIM:300867
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver...	OMIM:610253
Odontochondrodysplasia 1	Metaphyseal widening, Short phalanx of finger, Long philtrum, Genu varum, Short metacarpal, Short...	OMIM:184260
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Ring Chromosome 22 Syndrome	Large hands, Thick vermilion border, 2-3 toe syndactyly, Protruding tongue	ORPHA:1446
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Proximal placement of thumb, Protruding tongue, Diastema, Coxa valga, Gingival overg...	OMIM:212066
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Prolonged bleeding time, Osteomalacia, Coxa valga, Avascular necrosis of the capital ...	ORPHA:1901
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Small for gestational age, Microcephaly, Metatar...	OMIM:123450
Marshall-Smith Syndrome	Bowing of the long bones, Open mouth, Gingival overgrowth, Protruding tongue	ORPHA:561
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Absent frontal sinuses, Increased density of long bone diaphyses, High ...	OMIM:305620
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Cleft palate, Thin vermilion border, Abnormal ...	ORPHA:2631
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal...	OMIM:277440
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Protruding tongue	OMIM:242860
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Short stature, Selective tooth agenesis, Small for gestational age, Mi...	ORPHA:2959
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pa...	OMIM:620269
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Tapered finger, Everted lower lip vermilion, High palate, Prominent fingertip ...	OMIM:617804
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesit...	ORPHA:254525
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Dental malocclusion, Wide mout...	OMIM:619293
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Jo...	ORPHA:85408
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Short me...	OMIM:615777
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Cleft palate, G...	OMIM:614078
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Dental crowding, Short stature, Small for gestational age, Postnatal growt...	ORPHA:231140
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Dental ma...	OMIM:269880
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Rhizomelic Syndrome, Urbach Type	Short stature, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, W...	ORPHA:3098
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty...	ORPHA:2920
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Pyloric stenosis, Dental malocclusion, Slender toe, High palate, Macrocephaly	OMIM:310400
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te...	ORPHA:83450
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Microcephaly, Dental malocclusion, Wide mout...	OMIM:612731
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Disproportionate short-lim...	OMIM:146000
Cerebellofaciodental Syndrome	Short stature, Tapered finger, Microcephaly, Dental malocclusion, Shortening of all distal phalan...	OMIM:616202
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:411511
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary...	ORPHA:363444
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hamamy Syndrome	Long toe, Syndactyly, Thin upper lip vermilion, Osteopenia, Down-sloping shoulders, Craniosynosto...	OMIM:611174
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Disproportionate short stature, Short metatarsal, Flattened...	ORPHA:1856
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Bowing of the legs, Subperiosteal...	OMIM:264700
Icf Syndrome	Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue	OMIM:105830
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Microgn...	OMIM:215100
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Gingival overgrowth, Narrow mouth, Limb undergrowth	OMIM:230600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets...	OMIM:600081
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Tapered finger, Clinodactyly, Thick lower lip vermilion, Coxa valga,...	OMIM:301040
Dentinogenesis Imperfecta	Prolonged bleeding time, Finger joint hypermobility, Hyperextensibility at elbow, Knee joint hype...	ORPHA:49042
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Apert Syndrome	Mandibular prognathia, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal...	OMIM:101200
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation	OMIM:173420
Hallermann-Streiff Syndrome	Natal tooth, Small for gestational age, Selective tooth agenesis, Proportionate short stature, Mi...	OMIM:234100
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Osteoarthritis, Abnormal epiphysis morphology, Joint hyp...	ORPHA:90653
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Short stature, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cle...	OMIM:616894
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Protruding tongue	OMIM:619179
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Micrognath...	OMIM:600325
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Mild microcephaly, Increased overbite, Campto...	OMIM:618761
Raine Syndrome	Natal tooth, Bowing of the long bones, Micromelia, Protruding tongue, Gingival overgrowth, Cleft ...	OMIM:259775
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Abnormal meta...	ORPHA:85438
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High pala...	ORPHA:329178
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malo...	OMIM:618727
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth, Dental malocclusion	OMIM:619149
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion...	OMIM:269500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip...	ORPHA:93360
Lethal Recessive Chondrodysplasia	Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses	ORPHA:1423
Schwartz-Jampel Syndrome	Micrognathia, Coxa vara, High palate, Decreased body weight, Pursed lips, Increased bone mineral ...	ORPHA:800
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp...	ORPHA:289157
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Short stature,...	OMIM:269300
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Xylt1-Cdg	Relative macrocephaly, Short stature, Coxa valga, Microcephaly, Flared metaphysis, Cleft palate, ...	ORPHA:370930
Multiple Epiphyseal Dysplasia Type 4	Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara, Double-layered patella, A...	ORPHA:93307
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short...	OMIM:118651
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98794
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93399
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Failure to thrive in infancy,...	OMIM:618975
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Short stature, Small for gestational age, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue	ORPHA:96147
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the wrist, Keratitis, Osteoarthritis, Osteolysis, Abnormal diap...	ORPHA:1657
Filippi Syndrome	Microcephaly, 2-4 toe syndactyly, Postnatal growth retardation, Cutaneous syndactyly, Finger clin...	OMIM:272440
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Rocker bottom foot, Protruding tongue, Metatarsus adductus, High, na...	OMIM:214100
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Myopathy, Myofibrillar, 8	Micrognathia, High palate, Joint contracture of the 5th finger, Dental malocclusion	OMIM:617258
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Postnatal growth...	ORPHA:93324
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Bowing of the legs, Delayed epiphyseal ossification, Rickets...	OMIM:241530
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis, Abnormal metacarpal morphology	ORPHA:166100
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elbow flexion contracture, Knee flexion contracture, Sterile arthritis, Arthritis, Colitis,...	OMIM:604416
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Protruding tongue, Abnorm...	OMIM:200600
Adult-Onset Still Disease	Pericarditis, Skin rash, Cartilage destruction, Myocarditis, Hepatitis, Joint swelling, Arthritis	ORPHA:829
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Thick vermilion border, Narrow mouth, Overlapping fingers, Smooth philtrum, Ad...	OMIM:608779
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Short stature, Tapered finger, Microcephaly, Cleft lip, Narrow mouth, Small hand, Obe...	OMIM:618089
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Short stature, Abnormality of the dentition, Micrognathia, Microcephaly, Thick lower lip vermilio...	ORPHA:85321
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Tapered finger, Micrognathia, Micr...	ORPHA:444072
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Hypoplastic ...	ORPHA:93296
Rothmund-Thomson Syndrome Type 2	Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S...	ORPHA:221016
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ...	ORPHA:229717
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Arachnodactyly, Craniosynostosis, Micrognathia, Metatarsus adductus, Hypoplasia of th...	OMIM:182212
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short metatarsal, Cone-shaped epiphysis, Arthritis	OMIM:613328
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue	OMIM:619580
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ...	ORPHA:93316
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Pyloric ste...	ORPHA:96184
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog...	ORPHA:2909
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae	OMIM:314050
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time	ORPHA:638
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Relative macrocephaly, Short stature, Abnorm...	OMIM:115150
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Short stature, Micrognathia, Cleft palate, Genu valgum, Abnormal epiphysis ...	ORPHA:250984
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial h...	OMIM:265000
Hajdu-Cheney Syndrome	Osteopenia, Short stature, Intestinal malrotation, Micrognathia, Absent frontal sinuses, Dental m...	OMIM:102500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaph...	ORPHA:93346
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Micrognathia, Microcephaly, Cle...	OMIM:181180
Temple Syndrome	Relative macrocephaly, Short stature, Small for gestational age, Micrognathia, Overweight, Small ...	OMIM:616222
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Postaxial foot polydactyly, Macroglossia, Triangul...	OMIM:213300
Beaulieu-Boycott-Innes Syndrome	Microcephaly, Carious teeth, Micrognathia, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Bowing of the legs, Delayed epi...	OMIM:300554
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Protruding tongue, Flared me...	ORPHA:50945
Wild Type Abeta2M Amyloidosis	Abnormal shoulder morphology, Arthropathy, Arthritis	ORPHA:85446
Kniest Dysplasia	Hip contracture, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossification, Limi...	OMIM:156550
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Short stature, Micrognathia, Dental malocclusion, Osteoporosi...	OMIM:614008
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Overlapping toe, Protruding tongue, Deep philtrum, Premature loss of teeth,...	ORPHA:99843
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered finger, Dental ma...	OMIM:616737
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Decreased calvari...	OMIM:618265
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Microcephaly, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate,...	OMIM:619184
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Flexion contracture, Flared metaphysis...	OMIM:215150
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-space...	OMIM:601349
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Cleft palate, Ha...	ORPHA:2635
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Sho...	ORPHA:221008
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Protruding tongue, Bilateral camptodactyly, Small hand, Gingival over...	OMIM:619777
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Short stature, Flat c...	OMIM:147891
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Angelman Syndrome	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:72
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Dispro...	OMIM:609616
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Severe short stature, Clinodactyly, Hypoplastic pubic ...	OMIM:184250
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Hypoplastic ilia, Wide anterior fontanel, Abnormal...	ORPHA:2347
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Long philtrum, Syndactyly, Short stature, Persist...	ORPHA:97360
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Au-Kline Syndrome	Failure to thrive, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynostosis,...	OMIM:616580
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis	ORPHA:567544
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Cl...	OMIM:615560
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac...	OMIM:608728
Myh9-Related Disease	Menorrhagia, Prolonged bleeding time, Bruising susceptibility, Spontaneous, recurrent epistaxis	ORPHA:182050
Phelan-Mcdermid Syndrome	Micrognathia, Microcephaly, Dental malocclusion, 2-3 toe syndactyly, Macrocephaly, Widely spaced ...	OMIM:606232
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Trismus, De...	OMIM:227330
Laron Syndrome	Delayed menarche, Short long bone, Severe short stature	OMIM:262500
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Hamel Cerebro-Palato-Cardiac Syndrome	Short stature, Arachnodactyly, Micrognathia, Microcephaly, Cleft palate, Narrow mouth, Malar flat...	ORPHA:93946
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Micrognathia, Disproportionate short-trunk short stat...	ORPHA:94068
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Short stature, Rhizomelia, Squared iliac bon...	OMIM:611209
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding	ORPHA:1059
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:352665
Osteopetrosis, Autosomal Recessive 3	Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hi...	ORPHA:2780
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh...	OMIM:611717
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra...	OMIM:210720
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Limitation of joint mobility	ORPHA:2582
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Small for gestational age, Wide distal femoral metaphysis, ...	OMIM:613320
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media	OMIM:601457
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Hypop...	OMIM:180849
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti...	OMIM:277450
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Arthrit...	ORPHA:29207
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Cleft palate...	OMIM:258860
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis	OMIM:601399
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Microcep...	OMIM:610829
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Noonan Syndrome 4	Short stature, Large for gestational age, Dental malocclusion, Wide mouth, Thick vermilion border...	OMIM:610733
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl...	OMIM:106300
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Seckel Syndrome 5	Short stature, Selective tooth agenesis, Micrognathia, Microcephaly, Cleft palate, Oligodontia, H...	OMIM:613823
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalize...	ORPHA:85436
Cockayne Syndrome B	Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima...	OMIM:133540
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Protruding tongue, High palate, Clinodactyly of the 5th f...	OMIM:617062
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ...	OMIM:303600
Macs Syndrome	Joint laxity, Prolonged bleeding time, Osteoporosis, Bruising susceptibility, Joint hypermobility...	OMIM:613075
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Limitation of joint mobility, Coxa vara, Irregular epiphyses, Short femor...	OMIM:313400
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Immunodeficiency 61	Recurrent otitis media, Arthritis, Recurrent sinusitis	OMIM:300310
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Narrow philtrum, Thick lower lip...	ORPHA:163654
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ...	ORPHA:1855
Alkaptonuria	Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita...	OMIM:203500
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micrognathia, Metaphyseal widen...	OMIM:224400
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:614074
Localized Scleroderma	Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ...	ORPHA:90289
Hartnup Disorder	Glossitis	OMIM:234500
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Short stature, Craniosynostosis, Micrognathia, ...	ORPHA:96121
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen...	ORPHA:89936
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Bowing of the legs, Delayed epi...	OMIM:300009
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash	OMIM:620321
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Brachydactyly	ORPHA:2928
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations	OMIM:613435
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum...	ORPHA:487796
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Microce...	OMIM:216400
Orofaciodigital Syndrome Ix	Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent...	OMIM:258865
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Postnatal ...	OMIM:619135
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Short stature...	OMIM:614091
Tetraploidy	Micrognathia, Microcephaly, Radial club hand, Cleft palate, Short philtrum, Biparietal narrowing,...	ORPHA:3305
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Microcephaly, Decreased bo...	OMIM:608747
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Melorheostosis	Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness	ORPHA:2485
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge...	ORPHA:86822
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s...	ORPHA:793
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Ta...	OMIM:309580
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic...	ORPHA:2848
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Acrocraniofacial Dysostosis	Short stature, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Microcephaly, Cleft pa...	ORPHA:949
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Avascular necrosis of the capital femoral epiphysis, Arthritis, Cervical subluxation	OMIM:184100
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy, Talipes equinovarus	ORPHA:496689
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb...	OMIM:259100
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Essential Thrombocythemia	Myelofibrosis, Prolonged bleeding time	ORPHA:3318
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Ma...	OMIM:614524
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness	ORPHA:90354
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility	ORPHA:3226
Craniosynostosis And Dental Anomalies	Hallux valgus, Delayed eruption of teeth, Mandibular prognathia, Broad hallux, Dental crowding, S...	OMIM:614188
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Bowing of the long bones, Short long bone, Camptodactyly	OMIM:619751
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Malar flattening, Micrognathia, Dental malocclusion, Camptodactyly	OMIM:608257
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of ton...	OMIM:613091
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Abnormal carpal morphology, Hypoplasia of the cap...	ORPHA:85166
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage	ORPHA:90308
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a...	ORPHA:15
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Metaphyse...	ORPHA:440354
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Majeed Syndrome	Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul...	ORPHA:77297
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod...	OMIM:305600
Down Syndrome	Aganglionic megacolon, Sandal gap, Protruding tongue, Duodenal stenosis, Macroglossia, Short palm...	OMIM:190685
Laron Syndrome	Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly	ORPHA:633
Mccune-Albright Syndrome	Osteomalacia, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal facial skeleton morph...	ORPHA:562
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Microcephaly, Wide anterior fontanel, Metaphyseal widening, Decreased skull ossific...	OMIM:263210
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Irregular femoral epiphysis, Osteoarthritis, Arthri...	OMIM:108300
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Short thumb, Hypoplasia of the radius, Fibu...	OMIM:227270
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange...	OMIM:300166
Degcags Syndrome	Syndactyly, Toe syndactyly, Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, ...	OMIM:619488
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Arthrogryposis, Distal, Type 5	Keratoconus, Keratoglobus, Astigmatism	OMIM:108145
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Small hand, Osteoporosi...	ORPHA:2796
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the...	OMIM:615630
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Syndactyly, Protruding tongue, High, narrow palate, Anteriorly placed a...	OMIM:612289
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Short stature, Postnatal growth retardation, High palate, Lambdoid...	OMIM:616294
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Broad hallux, Dental crowding, Intestinal malrotation, Short stature, Avascular necr...	ORPHA:353281
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Joint stiffness, Osteolysis, Arthritis, Pur...	ORPHA:809
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Short stature, Supernumerar...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Short stature, Supernumerar...	ORPHA:353277
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a...	ORPHA:575
Familial Cold Autoinflammatory Syndrome 2	Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis	OMIM:611762
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Wide pubic symphysis, Sev...	ORPHA:239
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Furrowed tongue, Ulnar deviation of finger, Everted...	ORPHA:1387
Hypoglossia-Hypodactylia	Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia	OMIM:103300
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Osteopenia, Osteoarthritis, Squared iliac bones, Hip dislocation, Generalized join...	OMIM:618000
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Activated Pi3K-Delta Syndrome	Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Chronic sinusitis	ORPHA:397596
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Abnormal joint morphology, Limitation of joint mobility, R...	ORPHA:47612
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus	OMIM:616155
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Micr...	OMIM:258850
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:615633
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra...	OMIM:618961
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, High, narrow palate, Absent frontal sinuses...	OMIM:119600
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept...	OMIM:203300
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Arthritis, Conjunctivitis, In...	ORPHA:448237
Carpenter Syndrome 2	High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous finger syndactyly, High palate, C...	OMIM:614976
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Martin-Probst Syndrome	Short stature, Micrognathia, Microcephaly, Thick lower lip vermilion, Dental malocclusion, Wide m...	OMIM:300519
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ...	ORPHA:245
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Joint stiffness	ORPHA:1345
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Joint swelling, Polyarticular arthrit...	OMIM:180300
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ...	OMIM:187600
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep ph...	ORPHA:251038
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate...	OMIM:271640
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Micrognathia, Micro...	ORPHA:1865
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for...	ORPHA:140
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Skin rash	ORPHA:37748
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypop...	OMIM:151210
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Dental malocclusion, High palate, Short finger, Malar flattening, R...	OMIM:601552
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph...	OMIM:156400
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Short stature, Carious teeth, Wi...	OMIM:607812
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Conjunctivitis, Skin rash, Uveitis	OMIM:120100
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, 2-3 toe syndactyly, Downturned corners of mouth, Lobulated tongue, Shor...	OMIM:613443
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micrognathia, Microcephaly, Short long bone, Disp...	OMIM:224410
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Hypoplastic ilia, Flar...	OMIM:615349
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti...	OMIM:186580
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis	OMIM:616414
Cockayne Syndrome	Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Ca...	ORPHA:191
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Hematemesis, Intracrania...	ORPHA:906
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Clinodactyly, Pierre-Robin sequence, Glossoptosis, High palate, Camptod...	OMIM:613604
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Pfapa Syndrome	Arthritis, Infectious encephalitis	ORPHA:42642
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bowin...	OMIM:616462
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Finger swelling, Panniculitis, Co...	OMIM:617591
Hemochromatosis, Type 2A	Arthritis	OMIM:602390
Graft Versus Host Disease	Fasciitis, Myositis, Acute hepatitis, Dupuytren contracture, Limited elbow movement, Maculopapula...	ORPHA:39812
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration	OMIM:619656
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of finger, Protrusi...	ORPHA:284984
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Sandal gap, Hamartoma of tongu...	OMIM:174300
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Aplastic ...	ORPHA:1512
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Microtriplication 11Q24.1	Keratoconus	ORPHA:289522
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Short stature, Tapered finger, Mic...	OMIM:616007
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury...	OMIM:608654
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo...	OMIM:130000
Joubert Syndrome 18	Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, Talipes equinova...	OMIM:614815
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Short stature, Brachydactyly	OMIM:613819
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia, Short phalanx of finger,...	OMIM:601559
Noonan Syndrome 1	Short stature, Failure to thrive in infancy, Micrognathia, Postnatal growth retardation, High, na...	OMIM:163950
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow...	OMIM:312870
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hypoplasia...	ORPHA:2588
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Larsen Syndrome	Finger syndactyly, Short stature, Craniosynostosis, Accessory carpal bones, Cleft palate, Abnorma...	ORPHA:503
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia...	ORPHA:989
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Clinodactyl...	ORPHA:73223
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Bilateral Perisylvian Polymicrogyria	Protruding tongue	ORPHA:98889
Cinca Syndrome	Patellar overgrowth, Arthritis, Skin rash, Uveitis	OMIM:607115
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Hypoglossia With Situs Inversus	Microglossia, High palate, Hypodontia, Narrow mouth	OMIM:612776
Hemochromatosis, Type 3	Arthritis	OMIM:604250
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent otitis media, Arthritis, Recurrent sinusitis, Membranous nephropathy	OMIM:615559
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness	ORPHA:293967
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos...	OMIM:252600
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Cleft upper lip, S...	OMIM:263750
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Patchy variation in bone mineral density, Tetraphocomeli...	OMIM:215140
Eosinophilic Fasciitis	Arthritis, Fasciitis, Myositis	ORPHA:3165
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Congenital Fibrinogen Deficiency	Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Clubbing of fingers, Gingival...	ORPHA:335
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowding, Cleft uppe...	OMIM:219000
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac...	OMIM:602152
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Acetabular dysplasia, Impaired ADP-induced platelet aggregation	OMIM:608233
Lethal Congenital Contracture Syndrome 10	Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High palate, Long phi...	OMIM:617022
Williams Syndrome	Osteopenia, Micrognathia, Rectal prolapse, Clinodactyly of the 5th finger, Microdontia, Spina bif...	ORPHA:904
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis	ORPHA:220393
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Bronchiectasis, Joint hypermobility	OMIM:620080
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Polyarticular arthritis, Conjunctiv...	OMIM:142680
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Short stature, Abnormality of the dentition, Avascular necrosis of the capital...	ORPHA:93315
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Anti-Glomerular Basement Membrane Disease	Arthritis	ORPHA:375
Leber Congenital Amaurosis 9	Keratoconus	OMIM:608553
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Postnatal growth retardation, Micro...	ORPHA:263508
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Insulin Autoimmune Syndrome	Arthralgia/arthritis	ORPHA:411593
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Growth delay, Increased head circumference, ...	OMIM:612301
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Osteoporosis, Arthri...	ORPHA:465508
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Lesch-Nyhan Syndrome	Gout	ORPHA:510
Opsismodysplasia	Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ...	OMIM:258480
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac...	ORPHA:3103
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ...	ORPHA:93325
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:2753
Fraser Syndrome	Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Cleft upper lip, Microcephaly,...	ORPHA:2052
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Short s...	OMIM:139210
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis	OMIM:619423
Overlap Myositis	Subluxation of the small joints of the hand, Finger swelling, Rheumatoid arthritis, Arthritis	ORPHA:206572
Cerebrocostomandibular Syndrome	Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s...	OMIM:117650
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Calcaneovalgus deformity, Cleft palate, Furrowed tongue, Talipes equinovarus, Nar...	OMIM:615065
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Arthritis, Crohn's disease	OMIM:616100
Hemochromatosis, Type 4	Osteoarthritis	OMIM:606069
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Osteomalacia, Bowing of the legs, Delaye...	ORPHA:1652
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Clinodactyly of the 2nd finger, Co...	ORPHA:221139
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Cleft upper lip, Micr...	OMIM:211350
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Short iliac bones, Abnormal ili...	ORPHA:3003
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abno...	ORPHA:36412
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Relative macrocephaly, Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizome...	OMIM:618019
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abnormal calcif...	OMIM:271665
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Tapered finger, Hypogeusia, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Charcot-Marie-Tooth Disease, Type 4C	Talipes equinovarus, Hammertoe, Tongue atrophy, Tongue fasciculations	OMIM:601596
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Hypoplastic ilia, Ad...	ORPHA:3144
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Obesity, Macrocephaly, Clinodactyly of the 5th finger, Mala...	ORPHA:48652
Farber Disease	Abnormality of the knee, Short toe, Flexion contracture, Osteoporosis, Abnormality of the elbow, ...	ORPHA:333
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral fren...	ORPHA:1752
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Micr...	OMIM:617925
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton...	ORPHA:2001
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri...	ORPHA:2137
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamartoma of tongue,...	OMIM:269860
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Recurrent pneumonia, Eczema	OMIM:617780
Geleophysic Dysplasia 1	Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Short foot, Wide mout...	OMIM:231050
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Ulnar deviation of finger,...	ORPHA:1358
Williams-Beuren Syndrome	Hallux valgus, Colonic diverticula, Osteopenia, Short stature, Down-sloping shoulders, Failure to...	OMIM:194050
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, High, narrow palate, ...	ORPHA:2879
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Split hand...	OMIM:252500
Psoriasis 14, Pustular	Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis	OMIM:614204
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab...	ORPHA:2167
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus	ORPHA:401777
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Wilson Disease	Hepatitis, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture	ORPHA:905
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morph...	ORPHA:2759
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis	ORPHA:3099
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Acne, Osteoporosis	ORPHA:77296
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Abn...	ORPHA:228123
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong...	ORPHA:570
Melioidosis	Foot osteomyelitis, Pneumonia, Osteoarthritis, Hepatitis, Acute infectious pneumonia, Septic arth...	ORPHA:31202
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Hyperimmunoglobulinemia D With Periodic Fever	Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis	ORPHA:343
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Hyperextensibility of the finger joints, Cleft palate	OMIM:618356
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Classical Ehlers-Danlos Syndrome	Osteopenia, Prolonged bleeding time, Phalangeal dislocation, Osteoarthritis, Generalized joint la...	ORPHA:287
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Pneumonia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening,...	OMIM:607944
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout	OMIM:617056
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Choreoacanthocytosis	Protruding tongue	ORPHA:2388
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Tubul...	ORPHA:183
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations	OMIM:614678
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Loeys-Dietz Syndrome 3	Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis...	OMIM:613795
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit...	ORPHA:1304
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Gm1 Gangliosidosis Type 1	Gingival overgrowth, Macroglossia, Flared iliac wing, Short long bone, Long philtrum, Flattened f...	ORPHA:79255
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Widely spa...	OMIM:619479
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis	ORPHA:93552
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, 2-3 toe syndactyly, Pseudoep...	OMIM:611962
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Whipple Disease	Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis	ORPHA:3452
Cryoglobulinemic Vasculitis	Viral hepatitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:91138
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Eczema, Erythroderma	OMIM:619510
Adiposis Dolorosa	Arthritis, Recurrent skin infections	ORPHA:36397
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Orofaciodigital Syndrome I	Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ...	OMIM:311200
Sialuria	Prolonged prothrombin time, Long hallux, Joint hypermobility, 2-3 toe syndactyly	ORPHA:3166
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Polydactyly	ORPHA:531151
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Metatarsus adductus, High, narrow palate, Short thumb, Abnormal ...	ORPHA:436003
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Cleft palate, Tongue nodules...	OMIM:311900
Polymyositis	Arthritis, Pericarditis, Chondrocalcinosis	ORPHA:732
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Clubbing of fingers, Protein-losing...	OMIM:175500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand p...	OMIM:617088
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda...	ORPHA:1507
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness	OMIM:618175
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Crusting erythematous derm...	ORPHA:324625
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteolysis, Bone cyst	ORPHA:2396
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti...	ORPHA:99147
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Abnormal acetabulum morphology, Abnormality of the epiphysis of the f...	OMIM:618641
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Split hand, Hypoplas...	ORPHA:958
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Cohen Syndrome	Finger syndactyly, Macrodontia, Aplasia/Hypoplasia of the tongue, Arachnodactyly, Abnormality of ...	ORPHA:193
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Villous atrophy, Rhizomelia, Micrognathia, Wide ante...	ORPHA:79328
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Brachydactyly, Diastema, Furrowed tongue, Short foot, Large hands, High...	OMIM:300534
Marshall Syndrome	Osteoarthritis, Genu valgum	ORPHA:560
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Hematemesis, Melena, Gingival bleeding, Petechiae, Purpura	OMIM:301000
Costello Syndrome	Keratoconus	ORPHA:3071
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han...	OMIM:268310
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis	OMIM:109650
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Mandibuloacral Dysplasia	Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Osteolytic defects...	ORPHA:2457
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Cholangitis, A...	ORPHA:3260
Loeys-Dietz Syndrome 5	Arachnodactyly, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger fle...	OMIM:615582
Glycogen Storage Disease Vii	Gout	OMIM:232800
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, High palate, Short...	OMIM:616449
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Internal hemorrhage, Macular purpura	ORPHA:49566
Congenital Tufting Enteropathy	Arthritis, Punctate keratitis	ORPHA:92050
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut...	ORPHA:810
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Overlapping toe, High, na...	ORPHA:464738
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Gapo Syndrome	Keratoconus	ORPHA:2067
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Subperiosteal bone f...	OMIM:618188
Oculocerebrorenal Syndrome Of Lowe	Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Cheilitis, Genu valgum, Join...	ORPHA:534
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Giant Cell Arteritis	Arthritis, Pericarditis, Joint stiffness	ORPHA:397
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture	ORPHA:77259
Otopalatodigital Syndrome Type 2	Short palm, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, S...	ORPHA:90652
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Clubbing, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis	ORPHA:79128
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Arthritis, Erysipelas, Pancreatitis	ORPHA:342
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Selective Igm Deficiency	Fasciitis, Non-infectious meningitis, Allergic rhinitis, Keratitis, Lymphadenitis, Recurrent pneu...	ORPHA:331235
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Arthritis, Nephritis	ORPHA:91139
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Listeriosis	Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocardit...	ORPHA:533
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Catastrophic Antiphospholipid Syndrome	Myocarditis, Arthritis	ORPHA:464343
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Stickler Syndrome	Joint dislocation, Arachnodactyly, Protrusio acetabuli, Osteoarthritis, Hip dislocation, Uveitis,...	ORPHA:828
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis	ORPHA:93672
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Gapo Syndrome	Keratoconus, Shallow anterior chamber, Megalocornea	OMIM:230740
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Metaphyseal widening, Metaphyseal irregularity, Genu varum	OMIM:617941
Cardiac-Urogenital Syndrome	Tracheomalacia, Prolonged bleeding time, 2-3 toe syndactyly	OMIM:618280
Alg12-Cdg	Sandal gap, Proximal placement of thumb, Long fingers, Abnormal bone ossification, Prolonged prot...	ORPHA:79324
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Idiopathic Camptocormia	Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis	ORPHA:1320
Monosomy 13Q34	Epistaxis, Postaxial hand polydactyly, Hematochezia, Postaxial foot polydactyly, Prolonged prothr...	ORPHA:96168
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Erythema nodosum, Arthritis, Panniculitis, Recurrent sinusitis, Recurrent otit...	OMIM:615688
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Arthritis, Otitis media, Recurrent sinusitis, Chronic sinusitis	ORPHA:420741
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Hyper-Igd Syndrome	Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Serositis	OMIM:260920
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth	ORPHA:1790
Familial Mediterranean Fever	Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas	OMIM:249100
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Pierre-Robin sequence, Alveolar rid...	ORPHA:2886
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Arterial Tortuosity Syndrome	Keratoconus, Keratoglobus	ORPHA:3342
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:615108
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Cleft upper lip, Short toe, Pierre-Robin sequence, ...	OMIM:616145
Autosomal Dominant Robinow Syndrome	Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou...	ORPHA:3107
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie...	OMIM:619381
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis	ORPHA:761
Myopathy, Myofibrillar, 7	Tongue atrophy, Talipes equinovarus	OMIM:617114
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthritis, Hip dyspla...	ORPHA:217085
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Subcorneal Pustular Dermatosis	Pustule, Rheumatoid arthritis	ORPHA:48377
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Flexion contracture, Limitation of joint mobility, Arthritis, Hip dyspla...	ORPHA:217093
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:615109
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, Cholecystitis	ORPHA:2331
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Rickets	ORPHA:79303
Carey-Fineman-Ziter Syndrome 1	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Talipes equinovar...	OMIM:254940
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Coxa valga, Achilles tendon contracture, Redu...	ORPHA:404454
22Q11.2 Deletion Syndrome	Arachnodactyly, Acne, Seborrheic dermatitis, Multiple suture craniosynostosis, Joint hyperflexibi...	ORPHA:567
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Glossoptosis	ORPHA:2031
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Clubbing, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine	OMIM:181000
Frontorhiny	Camptodactyly of finger, Cleft palate, Finger clinodactyly, Bifid tongue, Brachydactyly	ORPHA:391474
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,...	ORPHA:3261
Relapsing Fever	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	ORPHA:91547
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis	OMIM:615846
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm...	ORPHA:861
Fabry Disease	Arthritis, Abnormal femur morphology, Reduced bone mineral density	ORPHA:324
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat...	ORPHA:453499
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Advanced eruption of teeth, Finger syndactyly, Abnormal dental morph...	ORPHA:818
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Small hand, ...	ORPHA:2108
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Flexion contracture	ORPHA:367
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Hepatoportal Sclerosis	Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage	ORPHA:64743
Hereditary Spherocytosis	Maculopapular exanthema, Gout	ORPHA:822
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ...	ORPHA:79259
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Glycogen Storage Disease Ib	Inflammation of the large intestine, Osteoporosis, Pancreatitis, Gout	OMIM:232220
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Tongue fasciculations	OMIM:211530
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:158350
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Abnormality ...	ORPHA:642
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Osteoporosis, Rickets	OMIM:212750
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Wilson Disease	Osteomalacia, Osteoarthritis, Atypical or prolonged hepatitis, Osteoporosis, Chondrocalcinosis, J...	OMIM:277900
Marfan Syndrome	Arachnodactyly, Protrusio acetabuli, Genu recurvatum, Equinus calcaneus, Metatarsus adductus, Fle...	OMIM:154700
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Prolonged prothrombin time, Flexion contracture	OMIM:616271
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Hallux valgus, Prominent fingertip pads, Bullet-shaped middle phal...	OMIM:602535
Acromegaly	Acne, Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Cortical diaphyseal thickenin...	ORPHA:963
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Microcornea, Keratoconus	OMIM:225400
Gamma-Heavy Chain Disease	Skin rash, Osteolysis, Rheumatoid arthritis	ORPHA:100026
Sitosterolemia 1	Arthritis	OMIM:210250
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures...	ORPHA:355
Tetrasomy 9P	Joint dislocation, Myositis, Hypoplastic scapulae, Pericarditis, Small hand, Arthritis, Small toe...	ORPHA:3310
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Oral leukoplakia, Furrowed tongue	OMIM:148210
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum	ORPHA:1051
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Coxa valga, Limited wrist movement, Osteoarthr...	ORPHA:740
Myasthenia Gravis	Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis	ORPHA:589
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Plague	Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Enterocolitis,...	ORPHA:707
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis	ORPHA:51
Somatomammotropinoma	Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Cortical diaphyseal thickening of t...	ORPHA:314769
Orofaciodigital Syndrome Type 14	Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of tongue, Supernumerar...	ORPHA:434179
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, High, narrow palate, Abnormal finger morphology, Apl...	ORPHA:3472
Liver Failure, Infantile, Transient	Prolonged prothrombin time	OMIM:613070
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Gout	OMIM:174000
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Prolonged prothrombin time, Flexion contracture	OMIM:212065
Insulin-Resistance Syndrome Type B	Skin rash, Osteoarthritis, Nephritis, Pneumonia	ORPHA:2298
Thymoma	Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Aspartylglucosaminuria	Chronic otitis media, Arthritis, Abnormal morphology of ulna, Joint stiffness	ORPHA:93
Mucopolysaccharidosis Type 2	Limitation of joint mobility, Abnormal epiphyseal ossification, Contractures of the large joints,...	ORPHA:580
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Acyl-Coa Dehydrogenase 9 Deficiency	Cerebellar hemorrhage, Prolonged prothrombin time	ORPHA:99901
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Flexion contracture of finger	ORPHA:101085
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Bowing of the long bones, Syndactyly, Int...	OMIM:249000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Joint hyperflexibility, Arthritis	ORPHA:93111
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu...	ORPHA:227990
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations, Hammertoe	ORPHA:99949
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, 2-3 toe cutaneous syndactyly, Small hand,...	ORPHA:1596
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Prolonged prothrombin time	OMIM:613812
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Pancreatitis	ORPHA:99826
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time	ORPHA:88618
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Osteopenia, Short femur, Recurrent skin infections, Camptodactyly of fin...	ORPHA:3455
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubu...	ORPHA:227982
Dermatomyositis	Myocarditis, Pericarditis, Chondrocalcinosis, Arthritis	ORPHA:221
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Glycogen Storage Disease Ic	Stomatitis, Inflammation of the large intestine, Gout, Chronic pancreatitis	OMIM:232240
Orofaciodigital Syndrome Xiv	Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Postaxial hand po...	OMIM:615948
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Short hard palate, Cleft palate	ORPHA:1393
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis	ORPHA:544482
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Clinodactyly of the 5...	OMIM:616975
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Small hand, Fibular hypoplasia, Downturned corners of mouth, Glossoptos...	ORPHA:444077
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time	OMIM:267700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time	ORPHA:71212
Gitelman Syndrome	Tubulointerstitial nephritis, Chondrocalcinosis, Hashimoto thyroiditis, Gout	ORPHA:358
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Os...	ORPHA:558
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta...	ORPHA:3206
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Membranous nephropathy...	ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Gaisböck Syndrome	Cholecystitis, Gout	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time	OMIM:618329
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Chronic Graft Versus Host Disease	Fasciitis, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthritis, Keratoco...	ORPHA:99921
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time	OMIM:603553
Abetalipoproteinemia	Abnormal bleeding, Osteopenia, Prolonged prothrombin time	ORPHA:14
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time	OMIM:614921
Meckel Syndrome	Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Postaxial ...	ORPHA:564
Hellp Syndrome	Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage	ORPHA:244242
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time	ORPHA:20
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
Tyrosinemia, Type I	Melena, Hypophosphatemic rickets, Prolonged prothrombin time, Gastrointestinal hemorrhage	OMIM:276700
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Brachy...	ORPHA:201
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Flexion contracture of finger, Congenital finger flexion contractures	ORPHA:466768
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis	ORPHA:653
Primary Sclerosing Cholangitis	Osteopenia, Prolonged prothrombin time, Osteoporosis	ORPHA:171
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Cleft upper lip, Esophageal atresia, Preaxial hand polydactyly, Postaxial...	ORPHA:93271
Isolated Biliary Atresia	Prolonged prothrombin time	ORPHA:30391
Kasabach-Merritt Syndrome	Prolonged prothrombin time, Petechiae, Purpura	ORPHA:2330
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time	ORPHA:309854
Viss Syndrome	Long toe, Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cle...	OMIM:619472
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage	ORPHA:247598
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility...	ORPHA:286
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Bleeding with minor or no trauma, Osteoporosis	OMIM:619525
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus	OMIM:130050
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti...	ORPHA:90062
Microsporidiosis	Glossitis	ORPHA:2552
Yellow Fever	Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Prolonged prothrombin ti...	ORPHA:99829
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Acne, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Papss2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Papss2.

No publications found that use IMPC mice or data for Papss2.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Papss2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Papss2^em1(IMPC)Bay	Exon Deletion	Mice
Papss2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Papss2 MGI:1330223

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

Electrocardiogram (ECG)

Human diseases caused by Papss2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data