Gene: Ostm1 MGI:2655574

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

osteopetrosis associated transmembrane protein 1

Synonyms:

HSPC019, gl, 1200002H13Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ostm1 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 Ostm1 (2 diseases)
Human diseases predicted to be associated with Ostm1 (1910 diseases)

The table below shows human diseases associated to Ostm1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 5		Cranial hyperostosis, Flared metaphysis, Long philtrum, Extramedullary hematopoiesis, Hepatosplen...	OMIM:259720
Infantile Osteopetrosis With Neuroaxonal Dysplasia		Pneumonia, Increased skull ossification	ORPHA:85179

The table below shows human diseases predicted to be associated to Ostm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Trichodentoosseous Syndrome	Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Increased bone mineral d...	OMIM:190320
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri...	ORPHA:83451
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu...	OMIM:600002
Cranioectodermal Dysplasia	Finger syndactyly, Abnormal toenail morphology, Everted lower lip vermilion, Sparse hair, Taurodo...	ORPHA:1515
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair	OMIM:616390
Pyle Disease	Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis...	OMIM:265900
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Generalize...	ORPHA:3416
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
17Q21.31 Microduplication Syndrome	Abnormality of the dentition, Failure to thrive, Anteverted nares, Micrognathia, Thick eyebrow, M...	ORPHA:217340
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Tetrasomy 12P	Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe...	ORPHA:884
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Cranial hyperostosis, Extramedull...	OMIM:259710
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Mandibular pain, Thickened cortex of long bones, Torus pa...	OMIM:607634
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu...	OMIM:166750
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Hirs...	ORPHA:2026
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Downslanted palpebr...	ORPHA:2025
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Osteoglosphonic Dysplasia	Rhizomelia, Abnormal clavicle morphology, Tooth agenesis, Failure to thrive in infancy, Micrognat...	ORPHA:2645
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nos...	ORPHA:2471
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Gene...	ORPHA:2222
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytop...	OMIM:259700
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Fingernail dysplasia, Curved distal phalanges of th...	ORPHA:3152
Rubinstein-Taybi Syndrome 2	Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Downslant...	OMIM:613684
Filippi Syndrome	Wide nasal bridge, Sparse hair, Frontal hirsutism, Underdeveloped nasal alae, Hypertrichosis, Ser...	OMIM:272440
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Abnormal fingernail morphology, Abnormal hair morphology, Agenesis ...	OMIM:604625
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of...	ORPHA:2228
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Blepharophimosis, Horner syndrom...	OMIM:141300
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Dentin Dysplasia	Abnormal dental enamel morphology, Increased bone mineral density, Abnormal dental morphology	ORPHA:1653
Flynn-Aird Syndrome	Alopecia, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Alopecia of...	OMIM:136300
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Craniometaphyseal Dysplasia	Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Telecanthus, Osteopetrosis	ORPHA:1522
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Osteopenia, Abnormality of carpal bone ossification, Hypoplasia of ...	OMIM:608154
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Short...	ORPHA:71267
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Failure of eruption of permanen...	ORPHA:2769
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, High pala...	OMIM:166250
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo...	ORPHA:53697
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Open bite...	ORPHA:2097
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo...	ORPHA:564003
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Obesity, Low posterior hairline, Epicanthus, High palate, Short nose	OMIM:300577
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Asymmetry of the thorax, High iliac wing, Coarse metaphyseal tr...	ORPHA:2780
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Thick eyebrow, Thin upper lip vermilion, Low posterior hairline, Gait disturbance, Ev...	ORPHA:2429
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Thick eyebrow, Radioulnar syno...	ORPHA:3268
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Abnormal dental enamel morphology, Narrow mouth, Ups...	ORPHA:1133
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Anteverted nares, Increas...	OMIM:618761
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti...	OMIM:619322
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wide nasal bridge, Limitation of joint mobility, Carpal osteolysis, Downturned corners of mouth, ...	ORPHA:2774
Trichodental Dysplasia	Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia	OMIM:601453
Liang-Wang Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618729
Renpenning Syndrome	High, narrow palate, Alopecia, Abnormal hairshaft morphology, Broad columella, Macrodontia, Joint...	ORPHA:3242
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Broad nasal tip, Dental malocclusion, Limited elbow extension, Thin upper lip ...	OMIM:619719
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Clark-Baraitser syndrome	Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Downslanted palpebr...	OMIM:300602
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Increased insulin like growth ...	OMIM:619489
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Decreased body weight, Osteopetrosis, Shallow orbits, Generalized hypopigmentation,...	OMIM:617306
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Rapp-Hodgkin Syndrome	Carious teeth, Velopharyngeal insufficiency, Small nail, Supernumerary nipple, Recurrent otitis m...	OMIM:129400
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m...	ORPHA:2501
Intellectual Disability, Birk-Barel Type	High, narrow palate, Highly arched eyebrow, Broad nasal tip, Foot joint contracture, Narrow nasal...	ORPHA:166108
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Hypophosphatemia, Rickets, Bulgin...	OMIM:277440
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Straight clavicles...	OMIM:113300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel mo...	ORPHA:2325
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Abnormal blood phosphate concentration, Bowing of t...	OMIM:619795
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair, Selective tooth agenesis, Microdontia	OMIM:617073
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Lower limb asymmetry, Tooth agenesis, Micrognathia, Abnormal femur morphology, Congenital diaphra...	ORPHA:2063
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet...	ORPHA:63442
Trisomy 9P	Dental crowding, Downturned corners of mouth, Hypoplastic fingernail, Impacted tooth, Fingernail ...	ORPHA:236
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Thin upper lip vermilion, Epicanthus, Short nose, Cleft palate	ORPHA:2015
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Coarse metaphyseal trabecularization, Abnormal ench...	ORPHA:2635
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Narrow mouth, Abnormal or...	ORPHA:1355
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long philtrum, Abnormal ...	ORPHA:1988
Temple-Baraitser Syndrome	Everted upper lip vermilion, Open mouth, Absent toenail, Epicanthus, Everted lower lip vermilion,...	ORPHA:420561
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Hypophosphatemia, Rickets, Bulging of the costoc...	OMIM:264700
Oculodentodigital Dysplasia	Carious teeth, Dry hair, Joint contracture of the 5th finger, Epicanthus, Blepharophimosis, Ataxi...	OMIM:164200
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches...	ORPHA:3214
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Highly arched eyebrow, Sparse lateral eyebrow, Long philtrum, Melanocytic...	ORPHA:261120
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Failure to thrive...	ORPHA:476126
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic...	OMIM:614564
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Downslanted palpebral fissures, Failure to thrive in infancy, Bulbous nose, Prominent...	OMIM:616801
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Pectus carinatum, Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increase...	OMIM:618476
Ramon Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Abnormality of r...	ORPHA:3019
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Joint stiffness, Micrognathia, Narrow mouth,...	ORPHA:1979
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Tooth malposition, Narrow chest, Delay...	ORPHA:2484
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Thick eyebrow, Microdontia, T...	OMIM:619736
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Depressed nasal ridge, Irregular hyperpigmentation, Delayed eruption of teeth, Abnormal eyebrow m...	ORPHA:1816
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Flynn-Aird Syndrome	Alopecia, Carious teeth, Joint stiffness, Cachexia, Ataxia, Bone cyst	ORPHA:2047
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Atkin-Flaitz Syndrome	Abnormality of the dentition, Broad nasal tip, Anteverted nares, Obesity, Everted lower lip vermi...	ORPHA:1193
Lowry-Maclean Syndrome	Convex nasal ridge, Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Ck Syndrome	Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma...	OMIM:300831
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Depressed nasal bridge, Delay...	OMIM:613849
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Christianson Syndrome	Arthrogryposis multiplex congenita, Abnormality of the nose, Thick eyebrow, Gait ataxia, Joint hy...	ORPHA:85278
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu...	OMIM:190350
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Hall-Riggs Syndrome	Wide nasal bridge, Coarse hair, Delayed eruption of teeth, Downturned corners of mouth, Failure t...	ORPHA:2107
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2...	OMIM:156510
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Broad-based gait, Widely spaced teeth, Prominent nose, Joint hypermobility, Ta...	OMIM:618205
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Gapo Syndrome	High, narrow palate, Depressed nasal bridge, Alopecia, Sparse eyebrow, Eruption failure, Long phi...	OMIM:230740
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Failure of eruption of perman...	ORPHA:3238
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Narrow chest, Broad phalanx of th...	OMIM:614378
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pil...	OMIM:602400
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia, Increased groin pigmentation with raindrop d...	OMIM:188150
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Downslante...	ORPHA:2863
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,...	ORPHA:2658
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Narrow mouth, Sparse eyelashes, Epicanthus, Long nose, Sparse hair, Hypoplasia of t...	OMIM:257850
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Rickets of the lower limbs...	OMIM:600785
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Pfeiffer-Palm-Teller Syndrome	Epicanthus, Joint stiffness, Enamel hypoplasia, Blepharophimosis	ORPHA:2871
X-Linked Hypohidrotic Ectodermal Dysplasia	Depressed nasal ridge, Everted upper lip vermilion, Delayed eruption of teeth, Sparse body hair, ...	ORPHA:181
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Prominent nose, Telecanthus, Fl...	OMIM:203550
Taurodontism	Taurodontia	OMIM:272700
Non-Distal Duplication 10Q	Depressed nasal bridge, Downslanted palpebral fissures, Micrognathia, Joint hypermobility, Everte...	ORPHA:1695
Hall-Riggs Syndrome	Depressed nasal bridge, Failure to thrive, Thick lower lip vermilion, Prominent nose, Hypoplasia ...	OMIM:234250
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy...	OMIM:226650
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Abnormality of the dentition, Abnormality of retinal pigmentation, Oligodontia, Unco...	ORPHA:1264
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Micrognathia, Femoral bowing, Dumbbel...	ORPHA:440354
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Highly arched eyebrow, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radiou...	OMIM:605282
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Unilateral cleft lip, Flared metaphysis, Thoracic hypoplasia, Decreased fibular diame...	OMIM:616897
Osteogenesis Imperfecta, Type V	Osteopenia, Dentinogenesis imperfecta, Joint hypermobility, Limited pronation/supination of forea...	OMIM:610967
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Genu valgum, Micrognathia, Bell-shaped tho...	ORPHA:56304
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, High anterior hairline, Abnormality of nail color, Camptodactyly of...	ORPHA:3220
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v...	ORPHA:2563
Osteosclerotic Metaphyseal Dysplasia	Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase...	OMIM:615198
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary...	ORPHA:667
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Oste...	OMIM:259730
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Odontochondrodysplasia	Dentinogenesis imperfecta, Depressed nasal bridge, Retrognathia, Delayed eruption of teeth, Joint...	ORPHA:166272
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Dystrophic toenail,...	ORPHA:970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint contracture of the hand, Bifid uvula, Broad femoral neck, Dental malocclusion, ...	OMIM:612350
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Cleft upper lip, Failure to thrive in infancy, Joint s...	ORPHA:819
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os...	ORPHA:1423
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Ataxia, Short palpebral fissure, Dental crowding, Delayed eruption of teeth, Lon...	OMIM:616354
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Flared metaphysis, Long philtrum, Extramedullary hematopoiesis, Hepatosplen...	OMIM:259720
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo...	ORPHA:94068
Orofacial Cleft 15	Sparse eyebrow, High anterior hairline, Palate fistula, Sparse eyelashes, Bilateral cleft palate,...	OMIM:616788
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Wide nasal bridge, Highly arched eyebrow, Dental crowding, Retrognathia, Thick lower lip vermilio...	OMIM:618342
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Craniodigital-Intellectual Disability Syndrome	Long eyelashes, Narrow nasal bridge, Micrognathia, Thick eyebrow, Generalized hirsutism, Abnormal...	ORPHA:1514
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad-based gait, Broad nasal tip, Underdeveloped nasal alae, Abnormality of p...	ORPHA:438216
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bulging of the co...	OMIM:600081
Lowry-Maclean Syndrome	High, narrow palate, Osteopenia, Hypoplasia of the maxilla, Choanal atresia, Generalized hypertri...	ORPHA:2409
Coffin-Siris Syndrome 3	Depressed nasal bridge, Sparse scalp hair, Long philtrum, Hypertrichosis, Anteverted nares, Wide ...	OMIM:614608
Desmosterolosis	Bifid uvula, Depressed nasal bridge, Retrognathia, Abnormality of the nose, Downslanted palpebral...	ORPHA:35107
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Frank-Ter Haar Syndrome	Wide nasal bridge, Depressed nasal bridge, Acne, Delayed eruption of teeth, Camptodactyly of fing...	ORPHA:137834
Mueller-Weiss Syndrome	Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional...	ORPHA:566943
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Short nose	ORPHA:1389
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Genu varum, ...	ORPHA:289157
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Fragile teeth, Thin bony cortex, Osteolysis, Prema...	OMIM:174810
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Joi...	OMIM:619692
Elsahy-Waters Syndrome	High palate, Wide nose, Hypoplasia of the maxilla, Downslanted palpebral fissures, Impacted tooth...	OMIM:211380
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Craniodiaphyseal Dysplasia, Autosomal Dominant	Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis...	OMIM:122860
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o...	ORPHA:90650
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Highly arched eyebrow, Long philtrum, Inability to walk, Thin upper lip v...	ORPHA:438178
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, Talipes equinovarus,...	OMIM:272460
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Downslanted palpebral fissures, Failure to thrive in infancy, Obes...	OMIM:613670
17Q11.2 Microduplication Syndrome	Sparse eyebrow, Abnormal dental enamel morphology, Thick nasal alae, Malar flattening, Sparse eye...	ORPHA:139474
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Long philtrum, Short nose	OMIM:125700
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Highly arched eyebrow, Dental crowding, Delayed eruption of teeth, Long philtrum, Underdeveloped ...	OMIM:618825
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Curly...	ORPHA:2710
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Long philtrum, Widely spaced teeth, An...	OMIM:249620
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, ...	ORPHA:1327
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp...	OMIM:211350
Proteus Syndrome	Mandibular hyperostosis, Cerebriform connective tissue nevus, Hypertrophy of skin of soles, Facia...	OMIM:176920
Osteogenesis Imperfecta, Type Xiii	Decreased body weight, Arachnodactyly, Generalized hirsutism, Dislocated radial head, Pectus cari...	OMIM:614856
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormality of the dentition, Mandibular osteomyelitis, Abnormal ...	ORPHA:53
Chung-Jansen Syndrome	Long philtrum, Anteverted nares, Micrognathia, Thick eyebrow, Upslanted palpebral fissure, Obesit...	OMIM:617991
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Craniometaphyseal Dysplasia, Autosomal Recessive	Wide nasal bridge, Depressed nasal ridge, Facial hyperostosis, Nasal congestion, Delayed eruption...	OMIM:218400
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort...	ORPHA:73
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Small nail, Alopecia totalis, Aplasia/Hypoplasia of the patella, ...	ORPHA:2909
Ring Chromosome 8 Syndrome	Anteverted nares, Abnormal palate morphology, Low posterior hairline, Epicanthus, Short nose	ORPHA:1450
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Recurrent pneumonia, Delayed eruption of teeth, Lon...	OMIM:214150
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Long eyelashes, Narrow mouth, Epicanthus, Thin vermilion border, Incisor macrodont...	OMIM:615502
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab...	ORPHA:1028
Craniometadiaphyseal Dysplasia	Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long b...	OMIM:269300
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis	ORPHA:2776
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate r...	ORPHA:1801
Osteogenesis Imperfecta, Type Xix	Osteopenia, Dentinogenesis imperfecta, Joint hypermobility, Multiple prenatal fractures, Recurren...	OMIM:301014
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Obesity, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatar...	OMIM:612463
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup...	OMIM:112350
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal epiphysis morphology, Microme...	ORPHA:628
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, D...	ORPHA:763
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr...	OMIM:620366
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Broad-based gait, Downturn...	OMIM:618067
Edinburgh Malformation Syndrome	Choanal atresia, Downturned corners of mouth, Failure to thrive, Joint stiffness, Micrognathia, N...	ORPHA:1895
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Depressed nasal bridge, Sparse eyebrow, Natal tooth, Downslanted palpebral fissures, Micrognathia...	OMIM:616901
Coffin-Siris Syndrome 2	Small nail, High palate, Wide nose, Long eyelashes, Low anterior hairline, Absent fifth toenail, ...	OMIM:614607
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Abnormality of the dentition, Umbilical hernia, Long eyelashes, Micrognathia, Femoral ...	OMIM:617952
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate, Arthrogryposis multiplex congenita, Abnormal mandible morphology	OMIM:217150
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal...	OMIM:614592
Weiss-Kruszka Syndrome	Highly arched eyebrow, Downslanted palpebral fissures, Exaggerated cupid's bow, Epicanthus, Promi...	ORPHA:502430
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Weight loss,...	ORPHA:141152
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Anteverted nares, Exaggerated cupid's bow, Epicanthus, Thick...	OMIM:618506
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Downslanted palpebral fissures, Micrognathia, ...	ORPHA:808
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes, Talipes equinovarus, A...	OMIM:108720
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Epicanthus, Osteopetrosis, Hypopigmentation of hair, Cafe-au-lait spot	OMIM:618541
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Craniosynostosis, Increased bone mineral density	ORPHA:178377
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Retro...	ORPHA:391372
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific...	OMIM:259440
Cleidocranial Dysplasia 2	Osteopenia, Short distal phalanx of finger, Broad thumb, Aplastic clavicle, Hypoplasia of the max...	OMIM:620099
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Finger clinodactyly, Abnormal number of incisors, Inguinal hernia, Supernumerary ri...	ORPHA:2958
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Highly arched eyebrow, Broad-based gait, Downturned corners of mouth, Bro...	OMIM:617865
Pitt-Hopkins Syndrome	Ataxia, Tooth malposition, Failure of eruption of permanent teeth, Hypopigmented skin patches, Tr...	ORPHA:2896
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Hypopigmentation of the skin, Short 1st metacarpal, Dental malocc...	OMIM:601957
Spondylometaphyseal Dysplasia, Type A4	Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc...	OMIM:609052
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downturned corners of mouth, Abnormal cl...	ORPHA:93267
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Broad foot, Talipes, Pes planus, Everted lower lip vermilion, Shor...	ORPHA:915
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Laron Syndrome	Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in...	ORPHA:633
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
19Q13.11 Microdeletion Syndrome	Retrognathia, Underdeveloped nasal alae, Broad columella, Supernumerary nipple, Sparse lateral ey...	ORPHA:217346
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Hypophosphatemia...	ORPHA:89936
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, High anterior hairline, Sparse scalp hair	OMIM:620062
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Natal tooth, Cranial hyperostosis, Oligodontia, Sparse eyelash...	OMIM:601345
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ...	ORPHA:50814
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia, Gastrointesti...	ORPHA:79405
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
48,Xxxy Syndrome	Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Abnormal dental enamel m...	ORPHA:96263
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Sparse body hair, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:305100
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the...	ORPHA:249
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Tented upper lip vermilion, Open mouth, Upslanted palpebral fissure, Joint hyper...	OMIM:300143
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Cole-Carpenter Syndrome 1	Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Microg...	OMIM:112240
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bulging of the co...	OMIM:241530
Waardenburg Syndrome Type 1	Wide nasal bridge, Hypopigmented skin patches, Cleft upper lip, Underdeveloped nasal alae, Abnorm...	ORPHA:894
Chondrodysplasia, Blomstrand Type	Narrow chest, Micromelia, Flared metaphysis, Micrognathia, Malar flattening, Short ribs, Generali...	OMIM:215045
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Long philtrum, Micrognathia, Prominent nasal bridge, Upslanted palpebral fissure...	OMIM:613544
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Hypocalcemic tetany, Hypocalcemia, Decreased skull ossifica...	ORPHA:93324
Atelosteogenesis Type I	Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified vertebral bodies, Mic...	ORPHA:1190
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited hip movement, Ankyloglossia, Micrognathia, Short lingual fr...	ORPHA:740
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Small hand, Conical tooth, Toenail dysplasia, Small nail, Abnormal ...	ORPHA:952
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Highly arched eyebrow, Sparse scalp hair, Short palpebral fissure, Delaye...	OMIM:615866
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Retrognathia, Micrognathia, Gingival overgrowth, Thick vermilion border, Epicanthu...	OMIM:618186
Brittle Cornea Syndrome 1	Red hair, Dentinogenesis imperfecta, Epicanthus, Joint hypermobility	OMIM:229200
Pierpont Syndrome	High anterior hairline, Broad nasal tip, Failure to thrive, Widely spaced teeth, Unilateral narro...	OMIM:602342
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Sparse lateral eyebrow, Eczematoid dermatitis, Acne invers...	OMIM:617337
Baker-Gordon Syndrome	Inability to walk, Joint hypermobility, Thin upper lip vermilion, Smooth philtrum, Prominent nasa...	OMIM:618218
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla...	ORPHA:313855
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Enlarged naris, Elbow flexion contracture, Downslanted palpebral fissures, Ant...	ORPHA:371364
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving ...	ORPHA:221016
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Carious teeth, Thick lower lip vermilion, Abnormal fingernail morphology, Ante...	ORPHA:2701
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, High palate, Hypocal...	ORPHA:2785
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Hypoplastic fingernail, Anteverted nares, Micrognathia, Open mouth, Narrow...	OMIM:619356
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de...	OMIM:611490
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su...	OMIM:612447
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Coronal craniosynostosis, Depressed nasal bridge, Highly arched eyebrow, Natal...	OMIM:145420
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Alopecia totalis, Patellar aplasia, Calcinosis, Neutropenia, Leuk...	ORPHA:221008
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Failure to thrive, Congenital bilateral ptosis, Micrognathia, Low ante...	ORPHA:73272
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Delayed eruption of teeth, Open bit...	ORPHA:96264
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Broad nasal tip, Sparse lateral eyebrow, Hepatitis, Enamel hypoplasia, Thick vermi...	ORPHA:363523
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Gingival overgrowth, Median ...	ORPHA:1832
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia	ORPHA:79406
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Open bite, Thick lower lip vermilion, Prominent nose, ...	ORPHA:85293
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Obesity, Femoral bowing, Short...	ORPHA:174
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Narrow nasal bridge, Micrognathia, Promin...	ORPHA:2058
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Small nail, Trichorrhexis nodosa, Anteverted nares, Concave nail, Nail dystrophy, S...	OMIM:234050
Pycnodysostosis	Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Prominent nose, Ridged ...	OMIM:265800
Ring Chromosome 10 Syndrome	Wide nasal bridge, Long philtrum, Downslanted palpebral fissures, Micrognathia, Cachexia, Thin ve...	ORPHA:1438
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Small nail, Cleft mandible, Thin eyebrow, Tented upper lip v...	ORPHA:364577
Maxillonasal Dysplasia	Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Tooth agenesis, Open bi...	ORPHA:1248
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Metacarpal osteolysis, ...	OMIM:166300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Short palpebral fissure, Downslanted palpebral fissures, Recurrent otitis medi...	OMIM:613604
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Hypoplastic fingernail, Cutaneous...	OMIM:113000
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Carious teeth, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashe...	OMIM:612843
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femoral bowing, Trident hand, ...	OMIM:100800
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased ...	OMIM:244460
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Micrognathia, Narrow mouth, Decreased body weight, Epicanthus, Sparse hair, Sho...	ORPHA:391408
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Decre...	OMIM:182250
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse eyelashes, Epicanthus, Blepharophimosis, Narrow palpebral fissure, Wide nose, Sparse eyebr...	OMIM:619293
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro...	ORPHA:251393
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Narrow chest, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtr...	ORPHA:163649
Potocki-Shaffer Syndrome	Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Sparse lateral eyebrow...	OMIM:601224
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Poikiloderma With Neutropenia	Carious teeth, Recurrent otitis media, Micrognathia, Low posterior hairline, Short nose, Sparse e...	OMIM:604173
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li...	ORPHA:93351
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of scalp, Enamel hypop...	ORPHA:79402
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Alopecia, Coarse hair, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar...	OMIM:613573
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Failure to thrive, Abnormal proportion of naive CD4 T cells, Multiple ...	ORPHA:1830
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Lower limb asymmet...	ORPHA:289176
Clark-Baraitser Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Obesity, Up...	OMIM:617752
3M Syndrome	Thin ribs, Everted lower lip vermilion, Hypoplastic ischia, Horizontal ribs, Short thorax, Clinod...	ORPHA:2616
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s...	OMIM:619787
48,Xyyy Syndrome	Depressed nasal bridge, Recurrent upper respiratory tract infections, Long philtrum, Thick lower ...	ORPHA:99329
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, ...	ORPHA:1775
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Furrowed tongue, ...	ORPHA:2930
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Fair hair, Anteverted nares, Obesity, Malar flattening, Blue irides, Red ...	OMIM:614613
Acromicric Dysplasia	Long philtrum, Thick lower lip vermilion, Bulbous nose, Joint stiffness, Anteverted nares, Narrow...	ORPHA:969
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Hypophosphatasia, Childhood	Carious teeth, Rachitic rosary, Elevated plasma pyrophosphate, Premature loss of primary teeth, C...	OMIM:241510
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Osteopenia, Abnormality of the dentition, Delayed eruption of teeth, Eczematoi...	ORPHA:2314
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Short toe, Delayed eruption of teeth, Short finger, Hypocalcemic tetany, Obesi...	OMIM:103580
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Failure to thrive in infancy, Abnormal metaphysis mor...	ORPHA:436
Char Syndrome	Depressed nasal ridge, Depressed nasal bridge, Supernumerary nipple, Downslanted palpebral fissur...	ORPHA:46627
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar...	OMIM:302350
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Congenital giant melanocytic nevus, Anteverted nares, Open mouth,...	OMIM:137550
Codas Syndrome	Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de...	ORPHA:1458
Achondrogenesis Type 1B	Narrow chest, Micromelia, Abnormal enchondral ossification, Long philtrum, Abnormal rib morpholog...	ORPHA:93298
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Retrognathia, Inability to walk, Gait ataxia, Enamel hypoplasia, Ataxia, High palate	OMIM:617915
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Frontal upsweep of hai...	OMIM:619797
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Alopecia, Dental crowding, Micrognathia, Lower eyel...	OMIM:616367
Barber-Say Syndrome	Wide nasal bridge, Delayed eruption of teeth, Failure to thrive, Ectropion, Breast aplasia, Bulbo...	ORPHA:1231
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Rhizomelia, Sparse eyebrow, Delayed eruption of teeth, Long philtrum, Irre...	ORPHA:263463
Odontomicronychial Dysplasia	Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu...	ORPHA:1811
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Foot joint...	ORPHA:444072
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Ridged nail, Narrow mouth, Nail dystrophy, Nail dys...	OMIM:246560
Hypotrichosis 8	Abnormality of the dentition, Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Spar...	OMIM:278150
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Pectus carinatum, Carious teeth, Abnormal epiphysis morphology, Abn...	ORPHA:582
Congenital Muscular Dystrophy Due To Lmna Mutation	Limitation of joint mobility, Joint hypermobility, Cachexia, Gait disturbance, Flexion contracture	ORPHA:157973
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Anteverted n...	ORPHA:1716
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Delayed eruption of teeth, Increased body weight, Increased body mass index, Ma...	OMIM:614450
Diencephalic Syndrome	Cachexia, Everted lower lip vermilion, Decreased body weight	ORPHA:1672
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Abnormality of the nose, Downslanted palpebral fissures, Malar flatt...	ORPHA:1390
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Micrognathia, Distichiasis, High palate, Short nose	ORPHA:2598
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture	OMIM:166700
Bartsocas-Papas Syndrome	Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Underdeveloped nasal alae, Alopecia t...	ORPHA:1234
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Burn-Mckeown Syndrome	Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Ab...	ORPHA:1200
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy...	ORPHA:75508
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Sparse eyebrow, Carious teeth, Short palpebral fissure, Retrognathia, Underdev...	OMIM:613026
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Downslanted palpebral ...	OMIM:610706
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Abnormal hair morphology, Genu valgum, Foot polydacty...	ORPHA:289
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Premature graying of hair, Open bite, Micrognathia, Alopecia of scalp, Abnormal pa...	ORPHA:2617
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Nail dysplasia, Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Cockayne Syndrome Type 2	Widely spaced primary teeth, Difficulty walking, Hypoplasia of the primary teeth, Delayed eruptio...	ORPHA:90322
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Clinodactyly, Small nail, Frontal upsweep of hair, Pes planus, Everted lower lip vermilion, High ...	OMIM:620494
X-Linked Creatine Transporter Deficiency	Open mouth, Malar flattening, Joint hypermobility, Cachexia, Ptosis, Ataxia, Athetosis	ORPHA:52503
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia, Bowing of limbs due to multiple fractures, Decreased cal...	OMIM:259420
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ...	OMIM:614744
Sulfite Oxidase Deficiency, Isolated	Eczematoid dermatitis, Delayed eruption of teeth, Fine hair, Ataxia, Choreoathetosis	OMIM:272300
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Mic...	OMIM:616294
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Macrodontia of permanent maxillary central incisor, N...	ORPHA:364028
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclusion, Slender ...	OMIM:616202
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Long eyelashes, Unilambdoid syn...	OMIM:618577
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Multiple rib fractures, Femur fracture, Osteop...	OMIM:612301
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Fine hair, Downslanted palpebral f...	OMIM:620250
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia	OMIM:612840
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
W Syndrome	Abnormality of the scalp hair, Upper lip pit, Broad uvula, Submucous cleft hard palate, Agenesis ...	ORPHA:2804
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair	ORPHA:2574
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Supernumerary nipple, Micrognathia, Sparse eyelashes, Sparse hair, Non-midline cleft of the upper...	ORPHA:1071
Cranio-Osteoarthropathy	Clubbing of toes, Mottled pigmentation, Deviation of finger, Abnormal tibia morphology, Joint sti...	ORPHA:1525
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o...	ORPHA:3035
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Epicanthus, Thin...	ORPHA:1906
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti...	OMIM:225500
Fetal Alcohol Syndrome	Joint stiffness, Micrognathia, Anteverted nares, Telecanthus, Microdontia, Thin upper lip vermili...	ORPHA:1915
Kabuki Syndrome 2	Eversion of lateral third of lower eyelids, Highly arched eyebrow, Broad nasal tip, Natal tooth, ...	OMIM:300867
Pili Torti	Abnormality of the dentition, Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morph...	ORPHA:2889
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Peho-Like Syndrome	Epicanthus, Open mouth, Retrognathia, Short nose	OMIM:617507
Premature Aging Syndrome, Penttinen Type	Thin ribs, Micrognathia, Flexion contracture of finger, Short foot, Sparse hair, Hypoplasia of th...	OMIM:601812
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Coarse hair, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Ant...	OMIM:219200
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Depressed nasal bridge, Carious teeth, Eczematoid dermatitis, Long philtrum, Downslanted palpebra...	OMIM:620191
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Widely spaced primary teeth, Sparse body hai...	OMIM:257980
Achondrogenesis Type 1A	Narrow chest, Micromelia, Abnormal enchondral ossification, Long philtrum, Umbilical hernia, Micr...	ORPHA:93299
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Trigonocephaly 1	High, narrow palate, Wide nasal bridge, Long philtrum, Upslanted palpebral fissure, Epicanthus, C...	OMIM:190440
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel ...	OMIM:612462
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Wide nasal bridge, Osteopenia, Depigmentation/hyperpigmentation of skin, Abnormality of hair text...	ORPHA:73223
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Long thorax, Postaxial polydacty...	OMIM:619142
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Inability to walk, Long eyelashes...	OMIM:617802
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Joint stiffness, Cachexia	ORPHA:1216
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Natal tooth, Oral leukoplakia, Sparse eyebrow, Folliculitis, ...	OMIM:167210
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta, Ataxia, Choreoathetosis	OMIM:615905
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Wide mouth, Ataxi...	ORPHA:411515
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Toenail dysplasia, Dental crowding, Long philtrum, Downslanted palpebral fissures, An...	OMIM:617877
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Micrognathia, Sparse eyelashes, Absent eyelashes, Epicanthus, Absent e...	OMIM:268400
Acrootoocular Syndrome	High, narrow palate, Small for gestational age, Dental malocclusion, Short toe, Sandal gap, Short...	ORPHA:2980
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Chand Syndrome	Agenesis of permanent teeth, Nail dysplasia, Abnormal oral frenulum morphology, Curly hair, Bifid...	ORPHA:1401
Waardenburg Syndrome, Type 3	Wide nasal bridge, Joint contracture of the hand, Hypopigmented skin patches, Camptodactyly of fi...	OMIM:148820
Craniolenticulosutural Dysplasia	Carious teeth, Brittle hair, High palate, Sparse hair, Osteopenia, Forehead hyperpigmentation, Th...	OMIM:607812
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical hernia, Femoral ...	OMIM:618188
Fg Syndrome 5	Depressed nasal bridge, Diastema, Long philtrum, Anteverted nares, Upslanted palpebral fissure, E...	OMIM:300581
Eem Syndrome	Carious teeth, Selective tooth agenesis, Widely spaced teeth, Sparse body hair, Abnormal dental m...	ORPHA:1897
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Bifid nasal tip, Highly arched eyebrow, Delayed ...	ORPHA:2712
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Failure to thrive, Nail dystrophy, Nail dysplasia, Enamel hypoplasia	OMIM:226700
Branchioskeletogenital Syndrome	Carious teeth, Hypoplasia of the maxilla, Broad nasal tip, Downturned corners of mouth, Downslant...	ORPHA:1299
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Hyperplasia of the maxilla, Synovitis, Rhinitis, Myocarditis, ...	ORPHA:499009
Perlman Syndrome	High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal upper lip morphology, Micrognathia...	ORPHA:2849
Three M Syndrome 2	Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Slender long bone, Clinodacty...	OMIM:612921
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Arthrogryposis-like hand anomaly, Mandibular prognathia, Depressed nasal bridg...	ORPHA:369891
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-sha...	ORPHA:397973
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Micrognathia, Open mouth, Hyp...	ORPHA:534
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration...	ORPHA:69087
Adenylosuccinate Lyase Deficiency	Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:46
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ...	OMIM:619638
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Tiger tail banding, Pes cavus, Slow-growing hair, Brittle hair, Increas...	OMIM:616943
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology,...	ORPHA:1540
Braddock-Carey Syndrome 1	Wide nasal bridge, Downslanted palpebral fissures, Anteverted nares, Telecanthus, Curly hair, Ena...	OMIM:619980
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Talipes equinovarus, Patchy alo...	ORPHA:85279
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Recurrent pneumonia, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormal palate morphol...	ORPHA:1495
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ...	OMIM:252100
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Pes planus, Everted lower lip vermilion, Large hands, High...	ORPHA:192
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, High anterior hairline, Cleft lip, Dry hair, Coarse hair, Failure to thri...	OMIM:620519
Leukodystrophy, Hypomyelinating, 10	Prominent eyelashes, Failure to thrive, Long philtrum, Downslanted palpebral fissures, Inability ...	OMIM:616420
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Dentinogenesis imperfecta, Periodontitis, Retrognathia, Obesity, Prominent nasal brid...	OMIM:619269
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal dental morphology, Abnormal hair mo...	ORPHA:248
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Failure to thrive, Anteverted nares, Gingival overgrowth, Open mou...	ORPHA:561
Recon Progeroid Syndrome	Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Hyperconvex...	OMIM:620370
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Neu...	ORPHA:2643
Mulibrey Nanism	Wide nasal bridge, Cachexia	ORPHA:2576
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge...	OMIM:136760
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Keratitis, Nail dystrophy, Nail dysplasia, Punctate keratitis, Scarring alopecia o...	OMIM:226670
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovaru...	ORPHA:2215
Keipert Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma...	ORPHA:2662
Gapo Syndrome	Asymmetry of the thorax, Early balding, Abnormal pelvic girdle bone morphology, Mandibular progna...	ORPHA:2067
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Failure to thrive, Recurrent fractures, Short humerus, Lateral fem...	OMIM:239000
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Failure to thrive, Onychog...	ORPHA:2309
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us