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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 (1901 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		Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Micrognathia, Thrombo...	OMIM:259720
Infantile Osteopetrosis With Neuroaxonal Dysplasia		Increased skull ossification, Pneumonia	ORPHA:85179

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

Disease	Matching phenotypes	Source
Book Syndrome	Premature graying of hair, Hypodontia	OMIM:112300
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ...	ORPHA:3352
Cranioectodermal Dysplasia	Narrow chest, Sparse hair, Clinodactyly of the 5th finger, Microdontia, Abnormal toenail morpholo...	ORPHA:1515
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal clavicle morphology, Generalized osteosclerosis, Cranial hyperost...	ORPHA:3416
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho...	ORPHA:2790
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
17Q21.31 Microduplication Syndrome	Epicanthus, Anteverted nares, Micrognathia, Abnormality of the dentition, Synophrys, High palate,...	ORPHA:217340
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Cachexia, Abn...	ORPHA:884
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen...	ORPHA:49042
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific...	OMIM:166750
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Ataxia, Abnormality of the dentition, Synophrys, Gingiv...	ORPHA:2026
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b...	ORPHA:2025
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Inguinal hernia, Rhizomelia, Failure to thrive in infancy, Craniosy...	ORPHA:2645
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin...	ORPHA:2222
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Underdeveloped nasal alae, Micrognathia, Prominent nose, Open bi...	ORPHA:2471
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Increased bone mineral density, Femur fracture, Osteomyelitis, Craniosynostosis, Ca...	OMIM:259700
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Rubinstein-Taybi Syndrome 2	Thick eyebrow, Epicanthus, Highly arched eyebrow, Micrognathia, Prominent nose, Carious teeth, Ta...	OMIM:613684
Otodental Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo...	ORPHA:2791
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm...	OMIM:604625
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Poliosis, Dental malocclusion, Horner syndrome...	OMIM:141300
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to...	ORPHA:2228
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Ataxia, Joint stiffness, Carious teeth, Osteoporosis, I...	OMIM:136300
Filippi Syndrome	Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Hypertrichosis, Thin vermili...	OMIM:272440
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Telecanthus, Depressed nasal bridge, Wide nasal bridge, Osteopetrosis	ORPHA:1522
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Short philtrum, Dentinogenesis i...	ORPHA:71267
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Sparse facial hair, Sparse axillary hai...	OMIM:608154
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Hypoplastic toenails, Short metatar...	OMIM:166250
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T...	ORPHA:53697
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morphology, Abnormal ri...	ORPHA:2097
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Intellectual Developmental Disorder, X-Linked 91	Epicanthus, Macrodontia, Obesity, Low posterior hairline, High palate, Short nose	OMIM:300577
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Facial hyperostosis, Hig...	ORPHA:2780
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Thick hair, Synophrys, Low posterior hairline, W...	ORPHA:2429
Catifa Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Cleft lip, Cleft palate, Gait disturbanc...	OMIM:618761
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Synophrys, Abnormal...	ORPHA:3268
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Cachexia, Ab...	ORPHA:1133
Liang-Wang Syndrome	Thin upper lip vermilion, Ataxia, Diastema, Synophrys, Wide nasal bridge, Gingival overgrowth, Do...	OMIM:618729
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, M...	ORPHA:166108
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteo...	ORPHA:2774
Renpenning Syndrome	Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Epicanthus, Macrodontia, Cachexia...	ORPHA:3242
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Broad nasal tip, Achilles tendon contracture, Dental malocclusion, Atop...	OMIM:619719
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower li...	OMIM:300602
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Depressed nasal ...	OMIM:129400
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A...	ORPHA:2779
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:277440
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Iris transillumination defect, Osteopetrosis, Shall...	OMIM:617306
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Multiple impacted teeth,...	OMIM:113300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip...	OMIM:619795
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai...	ORPHA:2325
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Lower li...	ORPHA:2063
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Tooth Agenesis, Selective, 8	Microdontia, Sparse hair, Selective tooth agenesis, Sparse eyebrow	OMIM:617073
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ...	ORPHA:2635
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Trisomy 9P	Dental crowding, Abnormal nasal morphology, Hypoplastic toenails, Non-midline cleft lip, Impacted...	ORPHA:236
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Cleft palate, Short nose	ORPHA:2015
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Narrow mouth, Depresse...	ORPHA:1355
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Short femur, Micrognathia, Rib fusion, Abnormal rib mo...	ORPHA:1988
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo...	OMIM:264700
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, Thick nasa...	ORPHA:420561
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Dental crowding, Micrognathia, Abnormality of the dentition, Synophrys, Congenital pt...	ORPHA:476126
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
14Q11.2 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia,...	ORPHA:261120
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Thin upper lip vermilion, Hip contracture, Epicanthus, Anteverted nares, Prominent na...	OMIM:616801
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Uveitis, High palate, Joint contracture of the 5th finger, Sp...	OMIM:164200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, Abnormal size of the palpebral ...	ORPHA:3214
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Metaphyseal widening, Craniofacial osteosclerosis, Increased skull os...	OMIM:618476
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Melnick-Needles Syndrome	Omphalocele, Delayed eruption of teeth, Bowing of the long bones, Craniofacial hyperostosis, Coxa...	ORPHA:2484
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology...	ORPHA:3019
Flynn-Aird Syndrome	Alopecia, Ataxia, Cachexia, Joint stiffness, Carious teeth, Bone cyst	ORPHA:2047
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Micrognathia, Abnormal hair morphology, Joint stiffness, Flexion contracture, Reduced b...	ORPHA:1979
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Epicanthus, Ataxia, Abnormal dental enamel morphology, Blep...	ORPHA:10
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid...	OMIM:619736
Ck Syndrome	Slender build, Dental crowding, Micrognathia, High palate, Malar flattening, Abnormal cortical bo...	OMIM:300831
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Depressed nasal ridge, Hypodontia, Genera...	ORPHA:1816
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Obesity, Everted lower lip vermi...	ORPHA:1193
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Convex nasal ridge, Cleft palate	OMIM:600252
Christianson Syndrome	Mandibular prognathia, Cachexia, Abnormality of the nose, Gait ataxia, Joint hyperflexibility, Tr...	ORPHA:85278
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Curly hair, Increased bone mineral density, Thin bony corte...	ORPHA:85184
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Cone...	OMIM:190350
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo...	OMIM:156510
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Anteverted nares, Abnormal dental enamel morphology, Thick...	ORPHA:2107
Gapo Syndrome	Alopecia, Epicanthus, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, S...	OMIM:230740
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos...	ORPHA:3238
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
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of t...	OMIM:257850
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Snijders Blok-Campeau Syndrome	Joint laxity, Epicanthus, Broad-based gait, Prominent nose, Unsteady gait, Wide nasal bridge, Tau...	OMIM:618205
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Pectus excavatum, Onychogryposis, Hip dysplasia, ...	OMIM:614378
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Small for gestational age, Dec...	OMIM:616897
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi...	ORPHA:2863
Isolated Osteopoikilosis	Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ...	ORPHA:166119
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Prominent nose, Carious teeth, Fl...	OMIM:203550
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Rickets of the lower limbs, Thin bony cort...	OMIM:600785
Taurodontism	Taurodontia	OMIM:272700
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail ...	OMIM:226650
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Prominent nos...	OMIM:234250
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ...	ORPHA:181
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima...	ORPHA:667
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hyperflexibility, High palate, Everted lower lip verm...	ORPHA:1695
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont...	ORPHA:1264
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e...	OMIM:610967
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib cage, Femoral ...	ORPHA:289157
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Epicanthus, Anteverted nares, Dental crowding, Ataxia, Inability to wa...	OMIM:616354
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna...	ORPHA:3220
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Hyperconvex nail, Thick lower lip vermilion, Dental malocc...	OMIM:157980
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Narrow chest...	ORPHA:1423
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met...	ORPHA:56304
Odontochondrodysplasia	Delayed eruption of teeth, Depressed nasal bridge, Joint hyperflexibility, Short nose, Retrognath...	ORPHA:166272
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dela...	ORPHA:819
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Hyperconvex nail, Large for gestational age, Thick lower l...	ORPHA:2563
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Pes planus, Short metacarpal, Osteopenia, Joint laxity, Camptodactyly ...	OMIM:612350
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Thick hair, Abnormal hair pattern, Micrognathia, Long eyelashes, Short nose,...	ORPHA:1514
Lowry-Maclean Syndrome	Osteopenia, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m...	ORPHA:2409
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Micrognathia, Thrombo...	OMIM:259720
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Microgna...	ORPHA:94068
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Epicanthus, Decreased body weight, Anteverted nares, Dental crowding, Highly arched eyebrow, Pers...	OMIM:618342
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Anteverted nares, Telecanthus, ...	ORPHA:438216
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Wide nose, Thick eyebrow, Depressed nasal bridge, Anteverted nar...	OMIM:614608
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Cachexia, Long philtrum, Short nose, Abnormal palate morphology	ORPHA:1389
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor...	OMIM:174810
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Wide nose, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary t...	OMIM:147060
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Epicanthus, Ataxia, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail ...	OMIM:619692
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Desmosterolosis	Increased bone mineral density, Epicanthus, Depressed nasal bridge, Failure to thrive, Micrognath...	ORPHA:35107
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Acne, Camptodactyly of ...	ORPHA:137834
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Bifid...	ORPHA:139474
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Brittle hair, Micrognathia, Clinodactyly of ...	ORPHA:2710
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Inability to walk, Long ...	ORPHA:438178
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra...	OMIM:122860
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Short nose, Retrognathi...	OMIM:613670
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Ohdo Syndrome	Joint laxity, Ptosis, Epicanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Sparse ...	OMIM:249620
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, ...	OMIM:272460
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Small for gestational age, Bone spicule pigment...	OMIM:216550
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Osteogenesis Imperfecta, Type Xiii	Femoral bowing, Pectus carinatum, Enlarged thorax, Reduced bone mineral density, Decreased body w...	OMIM:614856
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Dental crowding, Underdevelo...	OMIM:618825
Chung-Jansen Syndrome	Epicanthus, Anteverted nares, Joint hypermobility, Micrognathia, Synophrys, Obesity, Upslanted pa...	OMIM:617991
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Narrow mouth, Cleft palate, Thin vermilion border, Long eyelashes, Long philtrum, Inc...	OMIM:615502
Ring Chromosome 8 Syndrome	Epicanthus, Anteverted nares, Low posterior hairline, Short nose, Abnormal palate morphology	ORPHA:1450
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Abnormal rib morphology, Slender...	ORPHA:1486
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Prominent nasal bridge, ...	OMIM:214150
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, High palate, Bifid uvula, Anteverted...	OMIM:211380
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Highly ...	ORPHA:1327
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Proteus Syndrome	Thin bony cortex, Facial hyperostosis, Splenomegaly, Depigmentation/hyperpigmentation of skin, Mu...	OMIM:176920
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy...	OMIM:301014
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Dental malocclusion	OMIM:155050
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Abnormal nasopharynx morphology, Telecanthus, Wide nasal bridge, Nasal con...	OMIM:218400
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Enamel hypo...	OMIM:612463
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Joint stiffness, Synophrys, Lo...	ORPHA:1895
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sparse scalp hair, Epicanthus, Depressed nasal bridge, Sparse eyelashes, Sagittal cr...	OMIM:616901
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Broad-based gait, Synophrys, Wide nasal bridge, Downturned corners of m...	OMIM:618067
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Depressed nasal bridge, Anteverted nares, Thi...	OMIM:614607
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Camptodac...	ORPHA:628
Pycnodysostosis	Ridged nail, Abnormal clavicle morphology, Obtuse angle of mandible, Micrognathia, Hypoplasia of ...	ORPHA:763
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent ...	OMIM:618506
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Seckel Syndrome	Sparse scalp hair, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cachexia, T...	ORPHA:808
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis	ORPHA:178377
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Epicanthus, Hypopigmentation of hair, Osteopetrosis, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vertebral hypoplas...	OMIM:108720
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Weight loss, Aspiration pneumonia,...	ORPHA:141152
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Abnormal number of incisors, Coxa valga, Osteoporosis, Finger clinodactyly, Pate...	ORPHA:2958
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ...	OMIM:620099
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Recurrent skin infections, Broad nasal tip, Blepharophi...	ORPHA:391372
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Pitt-Hopkins Syndrome	Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Ataxia, Triangular nasal tip, Hyp...	ORPHA:2896
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Thick eyebrow, Broad-based gait, Depressed nasal bridge, Ataxia, Highly arched eyebrow, Unsteady ...	OMIM:617865
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Hypopigmentation of the skin, Abnormality of hair texture, De...	OMIM:601957
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Underdeveloped nasal alae, Cachexia, Fine hair, Wide mou...	ORPHA:217346
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Aarskog-Scott Syndrome	Genu recurvatum, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th ...	ORPHA:915
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
48,Xxxy Syndrome	Mandibular prognathia, Pes planus, Inguinal hernia, Delayed eruption of teeth, Down-sloping shoul...	ORPHA:96263
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Laron Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia involving the nose, Hypoplastic nasal bridge, Micro...	ORPHA:633
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast...	OMIM:601345
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon...	OMIM:305100
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Sparse h...	ORPHA:221016
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe...	OMIM:602080
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Brittle hair, Hyperpigmentation of the skin, Prominent nasa...	ORPHA:50814
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, High anterior hairline, Sparse scalp hair	OMIM:620062
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Synophry...	OMIM:300143
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi...	ORPHA:894
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca...	ORPHA:2785
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Prominent nasal bridge, Micrognathia, Broad n...	OMIM:613544
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Sparse hair, Short ph...	ORPHA:221008
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Conical tooth, Abnormality of the dentition, Hypoplastic toenails...	ORPHA:952
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Brittle Cornea Syndrome 1	Red hair, Epicanthus, Dentinogenesis imperfecta, Joint laxity	OMIM:229200
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger	ORPHA:2776
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Limb joint contracture, Cachexia, Micrognathia, Flexion contracture, Gingival overgro...	OMIM:618186
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Ataxia, Inability to walk, Choreoathetosis, P...	OMIM:618218
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, ...	OMIM:617337
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Anteverted nares, Prominen...	ORPHA:371364
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope...	OMIM:611490
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Pfeiffer-Palm-Teller Syndrome	Blepharophimosis, Epicanthus, Enamel hypoplasia, Joint stiffness	ORPHA:2871
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fi...	OMIM:619356
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Epicanthus, Depressed nasal bridge, ...	ORPHA:96264
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Epicanthus, Anteverted nares, Abnormal fingernail morphology, Carious teeth, H...	ORPHA:2701
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Shallow orbits, Micr...	OMIM:112240
Pierpont Syndrome	Wide nose, Telecanthus, Broad nasal tip, Blepharophimosis, High anterior hairline, Unilateral nar...	OMIM:602342
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Lower e...	OMIM:118400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Micrognathia, Low anteri...	ORPHA:73272
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Ptosis, Depressed nasal ...	OMIM:615866
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth...	ORPHA:1832
Teebi Hypertelorism Syndrome 1	Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding,...	OMIM:145420
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Broad-based gait, Camptodactyly of finger, Abnormal hair pattern, Prominent nose, Ope...	ORPHA:85293
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Pycnodysostosis	Ridged nail, Increased bone mineral density, Delayed eruption of primary teeth, Persistence of pr...	OMIM:265800
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Anteverted nares, Sparse eyelashes, Concave nail, Abnormality of hair t...	OMIM:234050
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Prominent nasal bridge, Cachexia, Micrognathia, Thick lower lip vermilion, W...	ORPHA:2058
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin ...	OMIM:613604
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob...	ORPHA:364577
Kenny-Caffey Syndrome, Type 1	Long clavicles, Carious teeth, Thin clavicles, Hypomagnesemia, Small hand, Thin ribs, Short foot,...	OMIM:244460
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Congenital diaphragmatic hernia, Microgn...	OMIM:166300
Ring Chromosome 10 Syndrome	Cachexia, Micrognathia, Wide nasal bridge, Thin vermilion border, Long philtrum, Downslanted palp...	ORPHA:1438
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Hypoplastic to...	ORPHA:2930
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Carious teeth, Keratitis, Scarring alopecia of scalp, Sparse eyebrow,...	OMIM:612843
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro...	OMIM:619293
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Hig...	OMIM:182250
Achondroplasia	Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,...	OMIM:100800
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Broad nasal tip, Carious teeth, Hepatitis, Thick vermilion border, Enamel hypoplasia, Sparse late...	ORPHA:363523
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodontia, Short p...	ORPHA:391408
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Micrognathia, Flattened epiphysis, Flat acetabular ro...	ORPHA:163649
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Potocki-Shaffer Syndrome	Epicanthus, Telecanthus, Underdeveloped nasal alae, Wide nasal bridge, Downturned corners of mout...	OMIM:601224
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Short met...	ORPHA:93351
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrop...	ORPHA:79402
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Hypermelanotic macu...	ORPHA:1830
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe...	OMIM:613573
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na...	ORPHA:1248
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,...	OMIM:619787
Clark-Baraitser Syndrome	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Exaggerated cupid...	OMIM:617752
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity ...	OMIM:610539
48,Xyyy Syndrome	Epicanthus, Depressed nasal bridge, Acne, Recurrent upper respiratory tract infections, Thick low...	ORPHA:99329
Poikiloderma With Neutropenia	Micrognathia, Conjunctivitis, Joint laxity, Depressed nasal bridge, Sparse eyebrow, Retrognathia,...	OMIM:604173
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Premature loss of primary teeth, Bowing of the legs, Carious teeth...	OMIM:241510
Char Syndrome	Depressed nasal bridge, Supernumerary nipple, Persistence of primary teeth, No permanent dentitio...	ORPHA:46627
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Abnormal...	ORPHA:436
Acromicric Dysplasia	Abnormal eyebrow morphology, Anteverted nares, Joint stiffness, Bulbous nose, Thick lower lip ver...	ORPHA:969
Achondrogenesis Type 1B	Femoral hernia, Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnorma...	ORPHA:93298
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor...	OMIM:302350
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Thick lower lip vermilion, Fr...	OMIM:619797
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Ataxia, Inability to walk, Gait ataxia, High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Obesity, Osteoporosis, ...	OMIM:103580
3M Syndrome	Congenital hip dislocation, Hypoplastic ischia, Micromelia, Enlarged thorax, Clinodactyly of the ...	ORPHA:2616
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Metatarsus valgus...	ORPHA:3082
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Blue irides, Advanced ossificati...	OMIM:614613
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Congenital giant melanocytic nevus, Anteverted nares, Narrow nasal ...	OMIM:137550
Codas Syndrome	Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology,...	ORPHA:1458
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Eczema, Recurrent fractures, Abn...	ORPHA:2314
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebr...	ORPHA:263463
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Anteverted nares, Bulbous nose, Wide nasal br...	ORPHA:1231
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na...	ORPHA:1811
Split-Hand/Foot Malformation 3	Microretrognathia, Ridged nail, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate...	OMIM:246560
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Flexion contracture, Limitation of joint mobility, Joint hyperflexibility, Gait disturb...	ORPHA:157973
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, High palate, Long philtrum, Short nose, Distichiasis	ORPHA:2598
Distal Duplication 18Q	Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Abnormal ...	ORPHA:1716
Burn-Mckeown Syndrome	Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Short palpebral...	ORPHA:1200
Buschke-Ollendorff Syndrome	Joint stiffness, Connective tissue nevi, Lower limb asymmetry, Osteopoikilosis, Flexion contracture	OMIM:166700
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Diencephalic Syndrome	Everted lower lip vermilion, Cachexia, Decreased body weight	ORPHA:1672
Cerebellar-Facial-Dental Syndrome	Anteverted nares, Foot joint contracture, Micrognathia, Sparse eyebrow, Dental malocclusion, Wide...	ORPHA:444072
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Broad-based gait, Increased body weight, Ma...	OMIM:614450
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits, Hyperostosis, Pulp calcification, Taurodontia, Subperios...	OMIM:211900
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Carious ...	ORPHA:582
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R...	ORPHA:289176
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Narrow chest,...	ORPHA:289
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Epicanthus, Abnormality of the nose, Carious teeth, Synophry...	ORPHA:1390
Bartsocas-Papas Syndrome	Median cleft lip, Alopecia totalis, Micrognathia, Underdeveloped nasal alae, Hypoplastic toenails...	ORPHA:1234
Chromosome 19Q13.11 Deletion Syndrome, Distal	Failure to thrive, Anteverted nares, Sparse eyelashes, Micrognathia, Underdeveloped nasal alae, C...	OMIM:613026
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu...	OMIM:608940
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth	OMIM:615887
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Micrognathia, Carious teeth, Open bite, Low posterior hairline, Premature...	ORPHA:2617
Rhiny	Short nose, Thin vermilion border, Anteverted nares	OMIM:180360
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Ataxia, Eczema, Fine hair, Choreoathetosis	OMIM:272300
Cockayne Syndrome Type 2	Mandibular prognathia, Ataxia, Hypermelanotic macule, Delayed eruption of primary teeth, Flexion ...	ORPHA:90322
Cerebellofaciodental Syndrome	Pes planus, Tapered finger, Sparse eyebrow, Dental malocclusion, Shortening of all distal phalang...	OMIM:616202
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Slender build, Narrow palate, Short upper lip, Eversion of l...	ORPHA:364028
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Joint hyperflexibility, Athetosis, Malar flattening, Open mouth, Ptosis	ORPHA:52503
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow mouth, Synophrys, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Wid...	OMIM:620250
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Anemia...	OMIM:612301
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair...	ORPHA:2804
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ...	ORPHA:1525
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Elbow hypertrichosis, Epicanthus, Depressed nasal bridge, Eczema, Joint...	OMIM:620191
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Achondrogenesis Type 1A	Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Micrognathia, Abnormal e...	ORPHA:93299
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia...	ORPHA:3035
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Fetal Alcohol Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Micrognathia, Joint stiffnes...	ORPHA:1915
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Kabuki Syndrome 2	Joint laxity, Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Broad nasal tip, Lowe...	OMIM:300867
Trigonocephaly 1	Epicanthus, Craniosynostosis, High, narrow palate, Synophrys, Wide nasal bridge, Upslanted palpeb...	OMIM:190440
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoalbuminemia, Hypoplastic iliac win...	OMIM:235510
Fetal Valproate Spectrum Disorder	Epicanthus, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mou...	ORPHA:1906
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nar...	OMIM:614744
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Epicanthus, Micrognathia, Abnormality of hair texture, Synophrys, Abnor...	ORPHA:73223
Peho-Like Syndrome	Epicanthus, Short nose, Retrognathia, Open mouth	OMIM:617507
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Micrognathia, Ankyloblepharon, Hyperconvex fingernails, Coarse hair, Widely spaced...	ORPHA:1071
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal bridge, Long eyelashes, Long p...	OMIM:618577
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Obesity, Osteoporosis, Hyperphosph...	OMIM:612462
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Inability to walk, ...	OMIM:617802
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Downturned corners of mouth, Eyelid ...	ORPHA:1299
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P...	ORPHA:534
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog...	ORPHA:1897
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Small fo...	ORPHA:2980
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Sparse hair, Microdo...	OMIM:268400
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Ataxia, Choreoathetosis, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Anteverted nares, Abnormality of hair texture, Carious teeth, Wide anterior fontane...	OMIM:219200
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Failure to thrive	OMIM:226700
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Wide mouth, H...	ORPHA:411515
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hyperextensibility of the knee, Hypoplasia of the maxilla, Palmoplantar hyperkerato...	OMIM:601812
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, ...	OMIM:618188
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Prominent nasal bridge, Highly arched eyebrow, Abnormality of the dent...	ORPHA:2712
Waardenburg Syndrome, Type 3	Mandibular prognathia, Telecanthus, Partial albinism, Prominent nasal bridge, Camptodactyly of fi...	OMIM:148820
Acrocraniofacial Dysostosis	Abnormal fingernail morphology, Craniosynostosis, Tapered finger, Pectus excavatum, Coxa valga, M...	ORPHA:949
Fg Syndrome 5	Epicanthus, Depressed nasal bridge, Anteverted nares, Diastema, Upslanted palpebral fissure, Long...	OMIM:300581
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Perlman Syndrome	Epicanthus, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Wide nasal bridge, A...	ORPHA:2849
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye...	OMIM:167210
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Small for gestational age, Short thorax, Dental malo...	OMIM:612921
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum	ORPHA:46
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Abnormal dental morphology, Abnormali...	ORPHA:69087
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Thoracic kyphosis, Short 4th metacarpal...	OMIM:619638
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Patchy variation in bone minera...	OMIM:215140
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Anteverted nares, Dental crowding, Synophrys, Pierre-Robin ...	OMIM:617877
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Narrow mouth, Short nose, Abnormal pa...	ORPHA:1495
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Antev...	OMIM:607812
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Ataxia, Inability to walk, Dysmetria, Upslanted palpebral fissure, Narrow ...	OMIM:618087
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Patchy alopecia, High palate,...	ORPHA:85279
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Braddock-Carey Syndrome 1	Curly hair, Telecanthus, Anteverted nares, Pierre-Robin sequence, Wide nasal bridge, Cleft palate...	OMIM:619980
Squalene Synthase Deficiency	Failure to thrive in infancy, Micrognathia, Increased circulating farnesol concentration, Elbow f...	OMIM:618156
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia,...	ORPHA:2643
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Pectus carinatum, Hyperconvex fingernails, High palate, Widely spaced ...	ORPHA:192
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Anosmia, Oste...	OMIM:619718
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem...	OMIM:619142
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Chand Syndrome	Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi...	ORPHA:1401
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Inability to walk, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissu...	OMIM:616420
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Posta...	OMIM:136760
Marshall-Smith Syndrome	Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingiv...	ORPHA:561
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Epicanthus, Depressed nasal bridge, Ataxia, Bulbous nose, Low anterior hai...	ORPHA:369891
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral densi...	ORPHA:50945
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ...	OMIM:239000
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasa...	OMIM:620370
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Mulibrey Nanism	Wide nasal bridge, Cachexia	ORPHA:2576
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Keratitis, Nail dystrophy, Nail dysplasia, Enamel hypo...	OMIM:226670
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Obesity, Delayed eruption of permanent teeth, Periodontitis, ...	OMIM:619269
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of t...	ORPHA:2215
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp...	ORPHA:2309
Non-Distal Duplication 13Q	Abnormal fingernail morphology, Micrognathia, Abnormality of the dentition, Hypoplastic toenails,...	ORPHA:1702
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Telecanthus, Joint stiffness, Synophrys, Anosmia, Hypopigmented skin pa...	ORPHA:1295
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure...	ORPHA:2250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Short nose, Thin vermilion border, Narrow mouth	ORPHA:2370
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Melanocytic nevus, Anemia, Decreased skull ossification, Thrombocytopenia	ORPHA:3319
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Alopecia, Sparse ...	ORPHA:2067
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Joint hy...	ORPHA:1185
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Short femur, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of th...	OMIM:190351
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, B...	OMIM:618828
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent upper res...	OMIM:619752
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Uveitis, Reduced bone mineral density, Glossoptosis, Sparse ha...	ORPHA:2108
Schwartz-Jampel Syndrome	Micrognathia, Low anterior hairline, High palate, Decreased body weight, Wrist flexion contractur...	ORPHA:800
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinat...	OMIM:223800
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Achondrogenesis	Anteverted nares, Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral den...	ORPHA:932
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia, Joint stiffness	ORPHA:1144
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Mandibular prognathia, Increased bone mineral density, Cario...	OMIM:131300
Eec Syndrome	Entropion, Slow-growing hair, Abnormal dental enamel morphology, Choanal atresia, Carious teeth, ...	ORPHA:1896
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Obesity, Radioulnar syn...	ORPHA:171839
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the...	OMIM:600920
Al-Raqad Syndrome	Joint laxity, Thin upper lip vermilion, Inability to walk, Gait ataxia, Narrow mouth, Short nose,...	OMIM:616459
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp...	ORPHA:2741
4H Leukodystrophy	Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Dysmetria, Progressive gait atax...	ORPHA:289494
Jaberi-Elahi Syndrome	Broad-based gait, Brittle hair, Depressed nasal bridge, Sparse eyelashes, Joint stiffness, Sparse...	OMIM:617988
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender lon...	OMIM:612731
Jeune Syndrome	Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Po...	ORPHA:474
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha...	OMIM:212720
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli...	OMIM:616229
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Uveitis, Reduced ...	ORPHA:828
Mosaic Trisomy 14	Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Abnormal rib morphology, Cleft palat...	ORPHA:1703
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Miller-Dieker Syndrome	Epicanthus, Anteverted nares, Ataxia, Abnormal upper lip morphology, Short nose	ORPHA:531
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilio...	OMIM:620114
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot olig...	OMIM:601357
Vascular Malformation, Primary Intraosseous	Supraumbilical raphe, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia, Umbilical he...	OMIM:606893
Infantile Sialic Acid Storage Disease	Osteopenia, Fair hair, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal foot morphology, Abn...	OMIM:269920
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm...	ORPHA:3240
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Underdevelop...	ORPHA:2315
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Pectus excavatum, Hypopla...	ORPHA:776
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Catel-Manzke Syndrome	Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid ...	OMIM:616145
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormality of skin pigmentation, Increased intraabdominal fat, Hi...	ORPHA:2457
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s...	OMIM:253250
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Synophrys, Low posterior hairline, Downturned corners of mouth, Reduced bo...	ORPHA:2983
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomelia, Small for gestation...	OMIM:607143
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene...	OMIM:610968
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Depressed nasal bridg...	OMIM:608156
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, High palate, Spina bifida occul...	OMIM:193700
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teet...	OMIM:608612
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple, Abno...	ORPHA:1812
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Epicanthus, Tented upper lip vermilion, Anteverted nares, Telecanthus, Inabi...	OMIM:619383
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ...	OMIM:617061
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Wid...	OMIM:618727
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Narrow chest, Frontal hirsuti...	OMIM:309350
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Conical tooth, Carious teeth, Abnormal eyelid morphology, Ectropion of lo...	ORPHA:1997
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Inguinal hernia, Congenital hip dislocation, Prominence of the premaxill...	ORPHA:2412
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Dental crowding, Ta...	OMIM:300990
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, Micrognathia, Microcytic anemia, Short toe, Flexion contracture, Pectus carina...	ORPHA:98791
Anauxetic Dysplasia 3	Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar kyphoscoliosis, Joint hypermobi...	OMIM:618853
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Low anter...	ORPHA:329178
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Anteverted nares, Eczema, Abnormal...	ORPHA:238468
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos...	OMIM:224690
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Nail dystrophy, Enamel hypop...	ORPHA:79405
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla...	OMIM:108721
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplastic toenails, Hypoplasia of the zygomatic bone, Nail dysplasia, M...	ORPHA:2835
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory trac...	OMIM:614069
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Abnormality ...	ORPHA:193
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys...	ORPHA:90653
Spinocerebellar Ataxia 48	Gait ataxia, Ataxia, Cachexia, Dysmetria	OMIM:618093
Gomez-Lopez-Hernandez Syndrome	Alopecia, Anteverted nares, Ataxia, Craniosynostosis, Wide anterior fontanel, Thin vermilion bord...	OMIM:601853
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Gastrointestinal infla...	ORPHA:79411
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Pectus carinatum, Long philtrum, M...	ORPHA:261295
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hyperpigmentation of the skin	OMIM:175100
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Narrow ...	OMIM:264090
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Thin upper lip vermilion, Limited elbow extension and supination, Prominent nasal b...	ORPHA:401935
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Cachex...	ORPHA:77297
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Long hallux, Increased...	OMIM:259775
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Failure to thrive, Anteverted nares, Highly arched eyebrow,...	OMIM:243310
Acrofacial Dysostosis, Catania Type	Microretrognathia, Abnormal hair pattern, Abnormality of the dentition, Carious teeth, Abnormal p...	ORPHA:1786
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphyseal cupping ...	OMIM:300232
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	ORPHA:280365
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Onychauxis, High palate, Advanced eruption of t...	OMIM:262190
Short Syndrome	Alopecia, Telecanthus, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal ...	ORPHA:3163
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyp...	OMIM:184250
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Abnormal rib morphology, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Tetrasomy 18P	Epicanthus, Thin vermilion border, Gait disturbance, Narrow mouth, Short nose, Downslanted palpeb...	ORPHA:3307
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Epicanthus, Cleft lip, Bulbous nose, Deep philtrum, Inability to walk, Wide na...	OMIM:618571
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Foot oligodactyly, Short philtrum, Absent fingernail, Synostosis...	ORPHA:3258
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Hyperbilirubinemia, Decreased body weight, Elevated circulating lon...	OMIM:614886
Even-Plus Syndrome	Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, Atopic dermatitis, High...	OMIM:616854
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho...	ORPHA:811
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding to...	OMIM:610253
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Ob...	ORPHA:2180
Prolidase Deficiency	Depressed nasal bridge, Eczema, Micrognathia, Recurrent pneumonia, Crusting erythematous dermatit...	OMIM:170100
Intellectual Disability-Strabismus Syndrome	Micrognathia, Prominent nose, Synophrys, High palate, Depressed nasal bridge, Narrow nasal ridge,...	ORPHA:363528
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Malar p...	ORPHA:2522
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern...	ORPHA:1488
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Inability to walk, Downturned...	OMIM:613443
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Nail dystrophy, Hypodontia, Enamel hypoplasia, Anonychia	OMIM:616029
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Frontofacionasal Dysplasia	Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Brushfie...	ORPHA:1791
Seckel Syndrome 5	Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High p...	OMIM:613823
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Choreoathetosis, High palate, Sparse...	OMIM:234100
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Oculoskeletodental Syndrome	Epicanthus, Thick nasal alae, Depressed nasal bridge, Abnormality of the dentition, Wide nasal br...	ORPHA:557003
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Bulbous nose, Deep philtrum, Wide nasal bridge	ORPHA:1237
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, P...	OMIM:228520
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Riboflavin Transporter Deficiency	Ptosis, Ataxia, Cachexia, Iris hypopigmentation	ORPHA:97229
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, High palate, Short philtrum,...	ORPHA:251028
Down Syndrome	Joint laxity, Epicanthus, Depressed nasal bridge, Protruding tongue, Abnormality of the dentition...	ORPHA:870
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Harel-Yoon Syndrome	Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Upslanted palpebral fissure, Shor...	OMIM:617183
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Inguinal hernia, Joint laxity, ...	OMIM:610915
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog...	ORPHA:2145
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
12Q14 Microdeletion Syndrome	Wide nose, Thick eyebrow, Prominent nasal bridge, Micrognathia, Synophrys, Osteopoikilosis, Downt...	ORPHA:94063
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Abnormality of the...	ORPHA:178303
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Inability to walk, Flexion contracture	OMIM:617105
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Micrognathia, Underdeveloped nasal alae, Abnormal ...	ORPHA:2083
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Fetal Trimethadione Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Synophrys, High palate, Short nose, Ptosis	ORPHA:1913
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Microphthalmia With Limb Anomalies	Failure to thrive, Depressed nasal bridge, Cleft upper lip, Abnormal eyelash morphology, Capitate...	OMIM:206920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Protrud...	OMIM:242860
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Wei...	ORPHA:2221
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Inability to walk, Flexion contracture, Low anterior hairline, Wide na...	OMIM:218000
Incontinentia Pigmenti	Orofacial cleft, Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bi...	ORPHA:464
Osteopoikilosis And Dacryocystitis	Dacryocystitis, Osteopoikilosis	OMIM:166705
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Widely spaced teet...	OMIM:601216
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Nail dystrophy, Enamel hypop...	ORPHA:79406
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding...	OMIM:309583
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
17P13.3 Microduplication Syndrome	Wide nose, High palate, Narrow mouth, Short nose, Downslanted palpebral fissures	ORPHA:217385
Marshall Syndrome	Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Hypoplasia of the maxil...	ORPHA:560
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Coxa valga, Micrognathia, Long fingers, Hypoplasia ...	OMIM:608149
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Eclabion, Tiger tail banding, Failure to thrive, Tricho...	OMIM:616395
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Inguinal hernia, Coxa valga, Epiphyseal deformities of tubul...	OMIM:253000
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Sparse hair, Abnormal number of hair whorls, Anteverted na...	OMIM:611174
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Wide mouth, Joint contracture, Short nose, ...	OMIM:615419
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi...	OMIM:617052
Nijmegen Breakage Syndrome	Abnormal hair quantity, Depressed nasal bridge, Prominent nasal bridge, Cachexia, Prominent nose,...	ORPHA:647
Trisomy 20P	Micrognathia, Low anterior hairline, Reduced bone mineral density, Downturned corners of mouth, C...	ORPHA:261318
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Breast hypoplasia, Hypoplastic nipples, Nail dysplasia	OMIM:129550
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Wide nas...	ORPHA:2884
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Ataxia, Amelogenesis imperfecta	OMIM:226750
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Hyperconvex nail, Hi...	OMIM:239300
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Pectus excavatum, Hypoplasia of the maxilla, Pectus carinatum, High palate...	OMIM:300676
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Hypopigm...	ORPHA:53271
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Antevert...	ORPHA:363611
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Low anterior hairline, ...	ORPHA:1787
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Generalized hirsutism, Cachexia, Ptosis	ORPHA:1933
Koolen-De Vries Syndrome	High, narrow palate, Microdontia, Thick nasal alae, Vertebral fusion, Abnormal dental enamel morp...	ORPHA:96169
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Autosomal Recessive Spastic Paraplegia Type 77	Scissor gait, Loss of ambulation, Macrodontia of permanent maxillary central incisor, Retrognathi...	ORPHA:466722
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Autosomal Recessive Primary Microcephaly	Thin upper lip vermilion, Abnormal cortical bone morphology	ORPHA:2512
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Palpebral ...	ORPHA:261144
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis...	OMIM:104570
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Pfeiffer Syndrome	Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Dental crowding, Hypoplasia of th...	OMIM:101600
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Obesity, Low posterior hairline, Blepharophimosis, Short nose, D...	OMIM:611936
Sotos Syndrome	Mandibular prognathia, Joint laxity, Depressed nasal bridge, Anteverted nares, Broad nasal tip, S...	OMIM:117550
Rubinstein-Taybi Syndrome 1	Dental crowding, Prominent nose, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Fl...	OMIM:180849
Heimler Syndrome 1	Retinal pigment epithelial mottling, Leukonychia, Beau's lines, Enamel hypoplasia, Amelogenesis i...	OMIM:234580
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Short palm, Joint laxity, Syn...	OMIM:305400
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Anteverted nares, Small...	OMIM:615583
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mit...	OMIM:609638
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Triangular mouth, Fi...	OMIM:601675
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cu...	OMIM:619833
Scarf Syndrome	Ptosis, Epicanthus, Craniosynostosis, Low posterior hairline, Joint hyperflexibility, Hypoplastic...	ORPHA:3134
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Decreased circulating plasmalogen concentration, Rhiz...	OMIM:222765
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Telecanthus, Microg...	ORPHA:1974
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Medial flaring of the eyebrow, Dental crowding, Joint hypermobility, Long nose, ...	OMIM:617602
Coffin-Siris Syndrome	Low anterior hairline, Aspiration pneumonia, Thick nasal alae, Joint laxity, Depressed nasal brid...	ORPHA:1465
Distal Duplication 5Q	Epicanthus, Prominent nasal bridge, Eczema, Micrognathia, Carious teeth, Craniosynostosis, Thin v...	ORPHA:96097
16P12.1P12.3 Triplication Syndrome	Unilateral ptosis, Epicanthus, Failure to thrive, High, narrow palate, Bulbous nose, Wide mouth, ...	ORPHA:485405
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Epicanthus, Anteverted nares, Camptodactyly of finger, Blepharophimosis, Long ...	ORPHA:261211
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Inability to walk, Wide na...	OMIM:615716
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia...	OMIM:616331
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynostosis, Recurrent fractures, Joint st...	ORPHA:83
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and...	OMIM:261900
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Anterior rib cupping, Metaphysea...	OMIM:260400
Potocki-Lupski Syndrome	Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus...	OMIM:610883
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Inguinal hernia, Joint laxity, Lipodystrophy, Lipo...	OMIM:269880
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Micrognathia, Congenital contracture, High palate, Short nose	OMIM:615042
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Radioulnar synostosis, Hypodontia, Malar flatten...	OMIM:212780
Gardner Syndrome	Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Odontoma, Multiple unerupted te...	ORPHA:79665
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lowe...	OMIM:617412
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Melorheostosis	Increased bone mineral density, Lower limb asymmetry, Joint stiffness, Atypical scarring of skin,...	ORPHA:2485
5Q14.3 Microdeletion Syndrome	Anteverted nares, Open mouth, Upslanted palpebral fissure, Short philtrum, Short nose, Thick eyebrow	ORPHA:228384
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Failure to thrive, Short nose, Flexion contracture	OMIM:618379
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Highly arched eyebrow, Bilateral ptosi...	OMIM:614701
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Abnormal fingernail morphology, Abnormal hair pattern, Spl...	ORPHA:2796
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Epicanthus, Broad-based gait, Abnormal dental morphology, Eczema, Micr...	ORPHA:369950
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Low anterior h...	ORPHA:2095
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit...	OMIM:166200
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Joint laxity, Depressed nasal bridge...	OMIM:619426
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Joint laxit...	OMIM:601390
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Sna...	OMIM:269250
Achondrogenesis, Type Ii	Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Anteverted nares, E...	ORPHA:261494
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Wide nose, Hip contracture, Prominent nasal bridge,...	ORPHA:85201
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail	OMIM:601319
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Triangular shaped distal phalange...	ORPHA:73230
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ...	OMIM:619636
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, B...	OMIM:618874
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal...	OMIM:609616
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose,...	OMIM:620292
Diamond-Blackfan Anemia 6	Macrocytic anemia, Failure to thrive, Micrognathia, Cleft upper lip, Short thumb, Cleft palate, P...	OMIM:612561
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Familial Multiple Lipomatosis	Bowing of the long bones, Odontogenic keratocysts of the jaw, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, High palate, Sp...	OMIM:115150
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Short thorax, Micrognathia	OMIM:601809
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Epicanthus, Tented upper lip vermilion, Small for...	OMIM:619148
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Trisomy 12P	Epicanthus, Supernumerary nipple, Micrognathia, Wide nasal bridge, Cleft palate, Downturned corne...	ORPHA:1699
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Broad-based gait, Ataxia, Protruding tongue, Obe...	ORPHA:411511
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Cachexia, Micrognathia, Narrow palate, Joint hyperflexibility, Irreg...	ORPHA:109
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Cachexia, Melanocytic nevus, Midline defec...	ORPHA:1969
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Capitate-hamate fusion, Wide nasal bridge, Cleft palate, Coronal craniosynostosis, ...	OMIM:614078
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Ptosis, Telecanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Microg...	ORPHA:314655
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Synophrys, ...	ORPHA:2463
Rett Syndrome	Cachexia, Abnormality of the dentition, Gait apraxia, Gait ataxia, Truncal ataxia	OMIM:312750
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ...	OMIM:231070
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Micrognathia, Pectus excavatum, H...	OMIM:300534
Zimmermann-Laband Syndrome	Facial hypertrichosis, Generalized hyperpigmentation, Micrognathia, Supernumerary tooth, Gingival...	ORPHA:3473
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Retinal pigment...	OMIM:614105
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Epicanthus, Wide nose, Depressed nasal ridge, Short nose	ORPHA:2831
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Ataxia, Dysmetria, Gait ataxia, Oligodontia, Dysdiadochok...	OMIM:614381
Waardenburg Syndrome Type 3	Narrow nasal bridge, Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Joint stif...	ORPHA:896
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Enlargement of the costochondral jun...	OMIM:271650
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cortical subperiosteal res...	ORPHA:94089
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Anteverted nares, Thick hair, Broad nasal tip, Carious teeth, Generalized joint laxity, Prominent...	ORPHA:357074
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Brittle hair, Dental crowding, Prominent nasal bridge, Joint stiffness, Lon...	OMIM:619184
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Frontal balding, Micrognathia, High, narrow palate, Synophrys, Abnormality of d...	ORPHA:96092
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Glossoptosis, High palate, Rhizomelia, Squared ilia...	OMIM:611209
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Joint hype...	OMIM:618590
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Increased serum beta-hexos...	OMIM:252600
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Ataxia, Long philtrum	ORPHA:833
Intellectual Developmental Disorder, Autosomal Recessive 68	Pes planus, Small for gestational age, Hypoplasia of the maxilla, Synophrys, Broad eyebrow	OMIM:618302
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp...	OMIM:616507
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Calcinosis, Short metacarpal, Short fifth metatarsal, Increased bone m...	ORPHA:79444
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Micrognathia, Upslanted palpebral fissure, Short philtrum, ...	OMIM:617237
Gm1-Gangliosidosis, Type Ii	Coxa valga, Protruding tongue, Splenomegaly, Joint stiffness, Gingival overgrowth, Hypoplastic ve...	OMIM:230600
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Hypoplasia of the maxilla, Abnormal hair whorl, Cleft palat...	OMIM:614261
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Hypermelanotic macule, Delayed eruption of primary...	ORPHA:90321
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Curly eyelashes, Low anterior ...	ORPHA:1517
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Thick eyebrow, Ataxia, Joint hypermobility, Carious teeth, Overweight,...	OMIM:619229
Alexander Disease Type I	Failure to thrive, Ataxia, Cachexia	ORPHA:363717
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Hypocalc...	ORPHA:175
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad eyebrow, Broad hallux, Arachnodactyly, Joint hypermobility, Hypopl...	ORPHA:481152
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin...	OMIM:269500
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Telecanthus, Dental crowding, Narrow mouth, High palate, Long philtrum, Short nose,...	OMIM:615539
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Pectus carinatum, Narro...	ORPHA:2462
Macrocephaly/Autism Syndrome	Joint laxity, Epicanthus, Depressed nasal bridge, Large for gestational age, Obesity, Coarse hair...	OMIM:605309
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, S...	ORPHA:2348
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Failure to thrive, Anteverted na...	OMIM:247200
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Abnormality of the dentition, Abnormality of the nose...	ORPHA:90289
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Acroosteolysis of distal phalanges (feet), Abnormality of the dentition, Micrognathia, ...	ORPHA:90154
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, White forelock...	ORPHA:2475
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Malar flattening, Fa...	OMIM:266510
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Blotching pigmentation of ...	OMIM:601559
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Limitation of joint mobility, Camptodactyly of finger, Micrognathia	ORPHA:2547
Incontinentia Pigmenti	Ridged nail, Conical tooth, Uveitis, Abnormality of skin pigmentation, Oligodontia, Coarse hair, ...	OMIM:308300
Werner Syndrome	Abnormality of retinal pigmentation, Sparse scalp hair, Increased bone mineral density, Lipoatrop...	ORPHA:902
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax mor...	ORPHA:508542
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Hamartoma of tongue, Cle...	OMIM:617925
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, High pala...	OMIM:618774
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, ...	OMIM:300558
Alopecia Antibody Deficiency	Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/...	ORPHA:1006
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Ruvalcaba Syndrome	Ptosis, Dental crowding, Hypopigmented skin patches, Generalized hirsutism, Thin vermilion border...	ORPHA:3121
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Pterygium, Long philtru...	ORPHA:93329
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Epicanthus, Micrognathia, Flexion contracture, Osteoporosis, Short nose, Failure to th...	OMIM:615851
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, C...	ORPHA:158687
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Osteopenia, Brittle hair, Multiple joint contra...	ORPHA:33364
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys, Protruding tongue	DECIPHER:52
Oculopharyngodistal Myopathy	High, narrow palate, Weight loss, High palate, Difficulty walking, Loss of ambulation, Difficulty...	ORPHA:98897
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel...	ORPHA:140936
Xfe Progeroid Syndrome	Cachexia, Premature loss of teeth, Enamel hypoplasia, Failure to thrive, Convex nasal ridge	OMIM:610965
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Broad-based gait, Protruding tongue, Wide mouth,...	ORPHA:98795
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ptosis, Multiple joint contractures, Dental crowding, Hoode...	ORPHA:96170
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Broad phalanges of t...	OMIM:277600
3Q29 Microdeletion Syndrome	Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft, Abnormali...	ORPHA:65286
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Curly hair, Depressed nasal bridge, Large for gestational age, Open mou...	OMIM:616638
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Abnormality of the dentition,...	OMIM:618529
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Patellar aplasia...	OMIM:613804
Silver-Russell Syndrome	Dental crowding, Failure to thrive in infancy, Cachexia, Micrognathia, Obesity, Downturned corner...	ORPHA:813
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Smooth philtrum, W...	OMIM:618737
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Joint stiffness, Choreoathetosis, Gait disturbance	ORPHA:702
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormality of the tongue, Weight loss, Increased susceptibility to fractures,...	ORPHA:216866
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Prolidase Deficiency	Abnormality of retinal pigmentation, Depressed nasal bridge, Abnormal fingernail morphology, Micr...	ORPHA:742
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Glossitis, Hyperpigmentation of the skin	OMIM:175500
Xylt1-Cdg	Joint laxity, Pes planus, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Truncal obesity...	ORPHA:370930
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Scarf Syndrome	Epicanthus, Prominent nasal bridge, Low anterior hairline, Wide nasal bridge, Coronal craniosynos...	OMIM:312830
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Prominent nasal bridge, Under...	ORPHA:3440
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Nail dystrophy, Nail dysplasia, Arthrogryposis multiplex congenita, Enamel...	OMIM:226730
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Skin rash, Allergic rhinitis, Carious teeth, Calvarial hyperostosis, Failure to thrive	OMIM:612714
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, P...	OMIM:616353
Fetal Hydantoin Syndrome	Ptosis, Epicanthus, Depressed nasal ridge, Cleft palate, Low posterior hairline, Wide mouth, Coar...	ORPHA:1912
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Warburg Micro Syndrome 3	Micrognathia, Inability to walk, Flexion contracture, Low anterior hairline, Narrow palate, Downt...	OMIM:614222
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Cleft ...	OMIM:620107
Pfapa Syndrome	Recurrent pharyngitis, Weight loss, Arthritis, Abnormal oral cavity morphology, Infectious enceph...	ORPHA:42642
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Ptosis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Depressed nasal b...	OMIM:123790
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Hyperconvex nail, Conical tooth, Hypoplasia of the ma...	OMIM:106260
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Cartilage-Hair Hypoplasia	Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, S...	OMIM:250250
Bloom Syndrome	Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Malar flattening, Cafe-au-lait sp...	OMIM:210900
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Narrow chest, Widely spaced teeth, Hypocalcemia, Microdontia, S...	OMIM:218330
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Wide nasal bridge, Joint contracture, High palate, Short nose, Ret...	OMIM:618005
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Wide nasal bridge, Narrow mouth, Craniofacial asym...	OMIM:601088
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ...	ORPHA:79113
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Sparse scalp hair, Highly arched eyebrow, Microg...	OMIM:619841
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Hamartoma of ...	OMIM:269860
Trisomy 18	Microretrognathia, Abnormality of retinal pigmentation, Epicanthus, Choanal atresia, Camptodactyl...	ORPHA:3380
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ectropion, Depressed nasal bridge, Anteverted nares, Ataxia, Limitation...	ORPHA:2719
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Cleft maxillary alveo...	ORPHA:508488
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum,...	ORPHA:3455
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Pancr...	ORPHA:733
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Depressed nasal bridge, Small for gestational age, Craniosynostosis, Micrognathia, Bl...	OMIM:614114
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib...	OMIM:166210
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, S...	OMIM:122880
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2962
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Hypopigmentation of hair, Broad-based ga...	ORPHA:98794
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Long nose, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslan...	OMIM:613680
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Leukopeni...	OMIM:231095
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Gait ataxia, Upslanted palpebral fissure, Short nose, Spasti...	ORPHA:496790
Desmosterolosis	Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Failure to thrive, Micrognathia, Generali...	OMIM:602398
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Recurrent upper respiratory tract infe...	OMIM:619769
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Craniofacial osteosclerosis, Osteolysis,...	ORPHA:324964
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowi...	ORPHA:1855
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Congenital diaphragmatic hernia, Micromelia, Micrognathia, High, nar...	OMIM:122470
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Tracheomalacia...	ORPHA:536467
Codas Syndrome	Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ...	OMIM:600373
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Dental crowding, Delayed eruption of primary teeth, Microgna...	OMIM:609029
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Ptosis, Epicanthus, Telecanthus, Prominent nasal br...	OMIM:223370
Intestinal Dysmotility Syndrome	Failure to thrive, High palate, Broad philtrum, Weight loss	OMIM:620045
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Generalized hyperpigmentation, Recurrent pharyngitis, Recu...	ORPHA:47612
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Short metatarsal,...	OMIM:608328
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Synoph...	OMIM:602535
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Abnormality of retinal pigmentation, Ptosis, Thick lower lip vermilion...	OMIM:309900
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
20Q11.2 Microduplication Syndrome	Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Palpebral edema...	ORPHA:363659
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Nephritis, Infectious encephalitis, Hepatitis, P...	ORPHA:2552
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p...	ORPHA:79443
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Short philtrum, Decreased body...	ORPHA:93945
Whipple Disease	Myositis, Pericarditis, Generalized hyperpigmentation, Ataxia, Cachexia, Myocarditis, Uveitis, Ar...	ORPHA:3452
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Prominent eyelashes, Wide nasal b...	OMIM:619179
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Ataxia, Dysmetria, Oligodontia, Hypodontia	ORPHA:447896
Doors Syndrome	Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth, ...	ORPHA:79500
Dacryocystitis-Osteopoikilosis Syndrome	Dacryocystitis, Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Flexion contracture, Hyperextensibility at wrists, Hypodontia, Nail dysplasi...	ORPHA:544503
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum	OMIM:613312
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Pectus carinatu...	ORPHA:3068
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Large...	ORPHA:96334
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Sagittal cran...	OMIM:616580
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Short nail, Inability to wal...	ORPHA:1675
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Carious teeth, Absent eyelashes, Lacrimal duct aplasia, Wide...	OMIM:620193
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Obesity, Bell-shaped thorax, Short long bone, Thora...	OMIM:615633
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Micr...	OMIM:244450
Cockayne Syndrome	Dry hair, Congenital contracture, Progressive gait ataxia, Abnormal dental morphology, Ataxia, Ag...	ORPHA:191
Spondyloocular Syndrome	Long toe, Pes planus, Osteopenia, Femur fracture, Arachnodactyly, Overlapping toe, Abnormality of...	OMIM:605822
Peho Syndrome	Epicanthus, Tented upper lip vermilion, Short nose, Retrognathia, Open mouth	OMIM:260565
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Gait ataxia, Widely...	OMIM:601358
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Downturned corners of...	OMIM:156200
Toluene Embryopathy	Epicanthus, Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short nose, Sh...	ORPHA:1920
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Small hand, Obesity, Short foot, Abnormal ulnar metaphysis morphology, ...	ORPHA:177910
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Conjunctivitis, Chronic otiti...	OMIM:616268
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Anteverted nares, Prominent nasal bridge, Trismus, Deep philtrum, Widow's peak,...	OMIM:227330
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Oral mucosal blisters, Flexion contracture, Conjunctivitis, Nail dystrophy, Nail dyspla...	OMIM:226600
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Coxa vara, Contract...	OMIM:616716
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit...	ORPHA:2323
Aspartylglucosaminuria	Mandibular prognathia, Pes planus, Inguinal hernia, Abnormal morphology of ulna, Abnormality of t...	ORPHA:93
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro...	OMIM:151210
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight	ORPHA:93950
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Epicanthus, Dep...	OMIM:608022
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Depressed nasal bridge, Anteverted nares, Ataxia, Abnormality of the dentition, Large...	OMIM:615398
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Thin vermi...	OMIM:241410
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph...	ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum, Wide mouth, Frontal upsweep of hair, Joint hypermobility	OMIM:617798
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Thick lower lip vermilion...	OMIM:619854
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c...	ORPHA:79474
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Metatarsus adductus, Hypoplasia of the maxilla, Thick lo...	ORPHA:293939
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Depressed nasal bridge, Ataxia,...	OMIM:618430
Frontofacionasal Dysplasia	Telecanthus, Underdeveloped nasal alae, Cleft upper lip, Blepharophimosis, Orofacial cleft, Ankyl...	OMIM:229400
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphyseal stippling, Sh...	ORPHA:1914
Distal Deletion 10Q	Thin upper lip vermilion, Epicanthus, Failure to thrive, Ataxia, Prominent nasal bridge, Craniosy...	ORPHA:96148
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Shallow orbits, Short nose, Downslanted palpebral fissures, Micrognathia	ORPHA:1129
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio...	OMIM:616723
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Abnormality of the dentition, Micrognathia, Sparse eyebrow, Supernumerary tooth...	ORPHA:77258
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Sparse ...	ORPHA:2834
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo...	ORPHA:3107
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal...	OMIM:114290
Hennekam Syndrome	Delayed eruption of teeth, Epicanthus, Depressed nasal bridge, Abnormal oral mucosa morphology, A...	ORPHA:2136
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Ataxia, Cachexia	ORPHA:42
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Nail dystrophy, Highly arched eyebrow, Long philtrum	OMIM:300887
C Syndrome	Fused sternal ossification centers, Epicanthus, Anteverted nares, Accessory oral frenulum, Microg...	OMIM:211750
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Celiac Disease, Susceptibility To, 1	Alopecia, Ataxia, Eczema, Osteoporosis, Thyroiditis, Rickets, Weight loss, Recurrent aphthous sto...	OMIM:212750
Pterygium Colli, Isolated	Epicanthus, Short nose, Low posterior hairline	OMIM:177990
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Ptosis, Depressed nasal bridge, Joint hypermobility, Micrognat...	OMIM:616007
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Upslanted pal...	ORPHA:1790
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Fibrochondrogenesis	Omphalocele, Hypoplastic fingernail, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, A...	ORPHA:2021
Juvenile Amyotrophic Lateral Sclerosis	Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Lower-limb joint contracture, ...	ORPHA:300605
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Overlapping fingers, Stiff neck, Micrognathia, Narrow palate, Fe...	OMIM:617022
Prader-Willi Syndrome Due To Translocation	Prominent nose, Micrognathia, Downturned corners of mouth, High palate, Hypopigmentation of the s...	ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ...	OMIM:309520
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Epicanthus, Anteverted nares, Prominent nasal bridge, Proboscis, Sp...	OMIM:605627
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Hyponatremia, Failure to thrive, Highly arched eyebrow, Micrognathia, Hypo...	OMIM:620157
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft lip, Denta...	OMIM:616894
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age	OMIM:245570
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Gait ataxia, Short philtrum, Widely spaced teeth, Sparse hair, Depress...	OMIM:280000
Tetrasomy 5P	Epicanthus, Anteverted nares, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Depigmenta...	ORPHA:3309
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the extraocular muscles, Weight loss, Cachexia, Ptosis	ORPHA:298
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Thin ...	OMIM:618395
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Prom...	OMIM:618316
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Abnormalit...	ORPHA:90354
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Gastrointestinal inflammati...	ORPHA:79410
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Microdontia, Sparse hair, Microre...	OMIM:278250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Depressed nasal bridge, Small for gestational age, Ataxia, Gout, Wide mouth, High pal...	OMIM:300661
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Blepharophimosis, Wide anter...	OMIM:217980
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, Deep philtrum, Cleft pa...	OMIM:610536
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Micrognathia, Long philtrum, Malar flattening, Short nose	ORPHA:93328
Cardiofaciocutaneous Syndrome	Brittle hair, High palate, Sparse hair, Dystrophic fingernails, Depressed nasal bridge, Anteverte...	ORPHA:1340
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Short metatarsal, Sparse hair, Short metacarpal, Rhizomelia, C...	OMIM:614813
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Retrognathia, Micrognathia	ORPHA:163961
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Ap...	ORPHA:958
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Large for gestational age, Thick lower lip vermilion, ...	ORPHA:261652
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigm...	OMIM:614072
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet...	OMIM:615873
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Abnormal rib morphology, Small hand, Short foot, Retrognathia, Thicken...	ORPHA:488434
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Absent cupid's bow, Bulbous nose, Synophrys, Short nose,...	ORPHA:284169
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r...	ORPHA:1145
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Abnormal palate morp...	ORPHA:93262
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Highly arched eyebrow, Hypoplasia of the maxilla, Absent eyelashes, Thick verm...	ORPHA:228396
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych...	ORPHA:37
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Na...	OMIM:612651
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim...	OMIM:261540
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Holzgreve Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi...	ORPHA:2167
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Short philtrum, Hypoalbuminemia, Abnormal bone ossific...	ORPHA:79324
Rabson-Mendenhall Syndrome	Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abno...	ORPHA:769
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flexion con...	OMIM:620369
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Hypocalc...	OMIM:602361
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Unsteady gait, Ataxia, Micrognathia	OMIM:256600
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Peho Syndrome	Epicanthus, Anteverted nares, Palpebral edema, Open mouth, Flexion contracture, Limitation of joi...	ORPHA:2836
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Congenital diaph...	OMIM:305600
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Cleft palate, Low posterior hairline, Abnormal shoulder morphology, Cerv...	ORPHA:2345
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Joint stiffness, Splenomegaly, Thick lower lip vermilion, Genu v...	ORPHA:583
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Elevate...	ORPHA:1652
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Synophrys, Epicanthus inversus, Low anterior hairline, ...	OMIM:613458
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Prominent nose, Dental malocclusion, Elb...	OMIM:210600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Micrognathia, Thrombocytopenia, Hyper...	OMIM:614857
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Dental crowding, Slender build, Limited elbow movement, Microgn...	ORPHA:558
Pallister-Hall-Like Syndrome	Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Microglossia, Short nose	OMIM:241800
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Abnormality of the nose, Abnormal mandible morphology...	ORPHA:93958
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Pigmentary retinopathy, Decrease...	OMIM:266270
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Depressed nasal bridge, Highly arched eyebrow, Abnormality of the dentition, Low anterior hairlin...	OMIM:615802
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, High palate, Short philt...	OMIM:618332
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Thin vermilion ...	OMIM:610015
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar aplasia, Submucous...	OMIM:613805
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Abnormality of...	ORPHA:317
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Wide nasal bridge, Upslanted palpebral fissure, Short philtrum, Open mouth, Sho...	OMIM:618437
Gm1 Gangliosidosis	Mandibular prognathia, Coarse metaphyseal trabecularization, Depressed nasal bridge, Camptodactyl...	ORPHA:354
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing...	OMIM:117650
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Clinodactyly of the ...	OMIM:167730
Carey-Fineman-Ziter Syndrome	Epicanthus, Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequen...	ORPHA:1358
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Large for gestational ...	ORPHA:77301
Weiss-Kruszka Syndrome	Ptosis, Epicanthus, Anteverted nares, Exaggerated cupid's bow, Highly arched eyebrow, Short nose,...	OMIM:618619
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Hyperconvex f...	OMIM:303600
Orofaciodigital Syndrome Iii	Hyperconvex nail, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Pectus carinatum, Coarse hair, High palate, Na...	OMIM:304150
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle...	OMIM:617895
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Nail dystrophy, Enamel hypoplasia, Corn...	OMIM:245660
Chops Syndrome	Curly hair, Anteverted nares, Thick hair, High, narrow palate, Synophrys, Obesity, Downturned cor...	OMIM:616368
Cerebrofaciothoracic Dysplasia	Wide nose, Thick eyebrow, Epicanthus, Abnormal hair pattern, Cleft upper lip, Synophrys, Cleft pa...	ORPHA:1394
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Depressed nasal bridge, Narrow nasal ridge, Absent eyelashes, ...	OMIM:275210
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Verte...	OMIM:602557
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Waardenburg Syndrome, Type 1	Mandibular prognathia, Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Telecanth...	OMIM:193500
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral...	OMIM:610682
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Micrognathia, Recurrent upper respiratory tract infections, Contractur...	ORPHA:3078
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Nail dystrophy, Enamel hypop...	ORPHA:79409
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Highly arched eyebrow, Underdeveloped nasal alae, Bulbous nose, Synophr...	OMIM:615803
3Mc Syndrome 2	Prominence of the premaxilla, Joint hypermobility, Highly arched eyebrow, Cleft upper lip, Cranio...	OMIM:265050
Chromosome 9P Deletion Syndrome	Narrow nail, Micrognathia, High, narrow palate, Deep philtrum, High palate, Depressed nasal bridg...	OMIM:158170
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Acrocephalopolydactyly	Epicanthus, Short nose, Depressed nasal ridge	ORPHA:221054
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Depressed nasal bridge, Anteverted nares, Small for gestational age, Deep philtrum, De...	OMIM:613320
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Scarring alopecia of scalp, Loss ...	ORPHA:95159
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,...	OMIM:164745
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sclerosing cholangitis, Oligodontia, Hypo...	OMIM:607626
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Oral ulcer, Weight loss, Arthritis...	OMIM:617321
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Carious teeth, Pterygium of nails, Osteoporosis, Reticular h...	OMIM:224230
8P23.1 Microdeletion Syndrome	Epicanthus, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Obesity, Weight loss, Upslan...	ORPHA:251071
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Prom...	OMIM:300912
Monosomy 9P	Micrognathia, Synophrys, High palate, Depressed nasal bridge, Anteverted nares, Thin nail, Highly...	ORPHA:261112
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Telecanthus, Abnormal fingernail morphology, Palpebral edema, Abnormal...	ORPHA:2036
Crouzon Syndrome	Hypoplasia of the maxilla, Hypopigmented skin patches, Narrow palate, Multiple suture craniosynos...	ORPHA:207
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ...	OMIM:620076
Distal Deletion 19P	Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Kelo...	ORPHA:96129
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Cr...	ORPHA:330015
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,...	ORPHA:3378
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Pectus carinatum, Femoral bowing, Foot oligodactyly, High ...	OMIM:276820
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Talipes,...	ORPHA:1647
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Inflammatory Bowel Disease (Crohn Disease) 1	Aphthous ulcer, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent a...	OMIM:266600
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Depressed nasal bridge, Anteverted nares, Macroglossia, Hig...	ORPHA:357001
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality...	ORPHA:56305
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Alopecia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Abnormal hair pattern, Cranios...	ORPHA:794
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Hypoplasia of the maxilla, Abnormal ossification involving the fe...	ORPHA:79345
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t...	ORPHA:861
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Cleft palate, Upslanted palpebral...	OMIM:614749
Adult Syndrome	Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse ax...	OMIM:103285
Micro Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Micrognathia, Joint stiffness, Wide nasal ...	ORPHA:2510
Obesity And Hypopigmentation	Red hair	OMIM:620195
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Micrognathia, Cleft palate, Persistence of hemoglobin F, Inc...	OMIM:300946
Aicardi Syndrome	Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vertebrae, Missing ribs,...	ORPHA:50
Trisomy 1Q	Omphalocele, Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Proteus Syndrome	Central heterochromia, Abnormality of skin pigmentation, Thick nasal alae, Generalized hirsutism,...	ORPHA:744
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Hypopigmentation of the skin, Iris hypopigme...	OMIM:176270
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi...	OMIM:619005
Huntington Disease-Like 2	Gait disturbance, Weight loss	ORPHA:98934
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Pect...	OMIM:609220
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Thick lower lip vermilion, Br...	OMIM:619727
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Ataxia, Seborrheic dermatitis, Flexion contrac...	OMIM:301072
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Dental crowd...	OMIM:614188
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Omphalocele, Inguinal hernia, Joint laxity, Overlapping toe, Exaggerated cupid's bow, P...	ORPHA:254528
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, Short philtrum, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Cl...	OMIM:618454
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Sparse scalp hair, Distal symphalangism, Prominent nasal bridge, Prominent nose, Areas of hypopig...	OMIM:210720
Nail-Patella Syndrome	Flexion contracture, Reduced bone mineral density, Knee flexion contracture, Nephritis, Abnormali...	ORPHA:2614
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Pneumonia, Carious teeth, Pilomatrixoma, Supernumerar...	ORPHA:353281
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Pectus carinatum, Reduced bone ...	ORPHA:2911
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Wiedemann-Steiner Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Synophrys, Wide nasal bridge, High palate, Lon...	ORPHA:319182
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Failure to thrive, Micrognathia, Protruding tongue, Low anterior hairline, Upslanted p...	OMIM:608779
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Wide nasal bridge, Narrow palpebral fissure...	OMIM:613603
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Narrow mout...	ORPHA:314679
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Leukonychia...	ORPHA:2905
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga	OMIM:109120
Specc1L-Related Hypertelorism Syndrome	Prominent nasal bridge, Highly arched eyebrow, Widow's peak, Wide nasal bridge, Orofacial cleft, ...	ORPHA:1519
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys...	OMIM:616462
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Abnormality of the dentition, Supernu...	ORPHA:502
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Sparse hair, Bifid u...	OMIM:620186
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Abno...	ORPHA:2759
Angelman Syndrome	Mandibular prognathia, Broad-based gait, Ataxia, Protruding tongue, Hypoplasia of the maxilla, Bl...	OMIM:105830
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Absent axillary hair, Cleft palate, Shallow orb...	OMIM:601353
Omodysplasia 1	Epicanthus, Depressed nasal bridge, Micrognathia, Limited knee flexion, Blepharophimosis, Wide na...	OMIM:258315
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High palate, Clino...	OMIM:266920
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology, Hypopigmented s...	ORPHA:96061
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Meier-Gorlin Syndrome 6	Microretrognathia, Entropion, Anteverted nares, Depressed nasal bridge, Small for gestational age...	OMIM:616835
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Flexion contracture, Ankylobl...	OMIM:263650
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Orofacial cleft, Polydac...	ORPHA:17
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Dry hair, Small for gestational age, Prominent nasal bridge,...	OMIM:133540
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p...	OMIM:250220
Microlissencephaly-Micromelia Syndrome	Palpebral edema, Generalized hypertrichosis, Short nose, Failure to thrive, Long philtrum	ORPHA:50810
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Micrognathia, Synophrys, Downturned corners of mouth, Short ph...	OMIM:619297
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tibial bowing, Short phil...	ORPHA:798
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Coarse hair, Everted lower lip vermilio...	OMIM:252930
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Epicanthus inversus, Flexion contracture, Oligodontia, High palate, Short philtrum,...	OMIM:309590
Menkes Disease	Bowing of the long bones, Inguinal hernia, Hypopigmentation of hair, Tarsal synostosis, Recurrent...	ORPHA:565
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Sparse scalp hair, Depressed nasal bridge, Bilateral ptos...	ORPHA:404448
Becker Nevus Syndrome	Lipoatrophy, Hypermelanotic macule, Micromelia, Lower limb asymmetry, Pectus excavatum, Supernume...	ORPHA:64755
Hereditary Acrokeratotic Poikiloderma	Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Finger syndactyly, Open bite, Ab...	ORPHA:2907
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Joint laxity, Highly arched eyebrow, Pi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Joint laxity, Highly arched eyebrow, Pi...	ORPHA:353277
Tuberculosis	Weight loss	ORPHA:3389
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Orofacial cle...	ORPHA:3301
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Cleft upper lip, Micrognathia, Flexion contracture, Cleft palate, Thin ribs, In...	OMIM:312150
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated circulating C-rea...	OMIM:612852
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,...	ORPHA:85167
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Cockayne Syndrome A	Mandibular prognathia, Slender nose, Dry hair, Hip contracture, Ataxia, Delayed eruption of prima...	OMIM:216400
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Osteoarthritis, Delayed epiphyseal ossification	OMIM:618618
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Epicanthus, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, High palate...	OMIM:300749
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Obesity, Wide mouth, Upslanted palpebral fissure, Short nose, Join...	ORPHA:293948
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Sparse hair, Decreased skull ossification,...	ORPHA:1662
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Abnormality of the temporomandibular joint, Psoriasiform dermatitis, Skin rash,...	ORPHA:85436
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Abnormality of the nose, Uveitis, Arthritis, Co...	ORPHA:575
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocytopenia, Spleno...	ORPHA:77259
Dermotrichic Syndrome	Depressed nasal bridge, Hyperconvex toenail, Nail dystrophy, Blepharophimosis, Short nose	ORPHA:99688
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Alopecia, Hamartoma of t...	OMIM:311200
Opitz Gbbb Syndrome	Natal tooth, Telecanthus, Anteverted nares, Craniosynostosis, Micrognathia, Cleft lip, Widow's pe...	ORPHA:2745
Pallister-Hall Syndrome	Syndactyly, Decreased circulating cortisol level, Mesoaxial foot polydactyly, Toe syndactyly, Mes...	OMIM:146510
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Delayed...	OMIM:149730
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Thin upper lip vermilion, Chronic oral candidiasis, Epicanthus, A...	OMIM:608233
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Brittle hair, Micrognathia, Sparse eyebrow, Narrow mouth, Hypocholesterolemia	OMIM:618810
Jacobsen Syndrome	Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormal eyelash...	OMIM:147791
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Talipes calcaneovalgu...	ORPHA:818
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Broad nasal tip, Hypoplastic fifth fingernail, Inability to walk, Wid...	OMIM:614207
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Carious teeth, Hyperlipidemia, Osteoporosi...	ORPHA:79259
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum	OMIM:302950
Ataxia-Telangiectasia	Hypopigmentation of hair, Ataxia, Premature graying of hair, Gait disturbance, Multiple cafe-au-l...	ORPHA:100
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Decreased body weight, Depressed nasal bridge, Anteverted nares, Aki...	OMIM:608013
Frontorhiny	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak, Hypoplasti...	ORPHA:391474
Distal Deletion 9P	Epicanthus, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, U...	ORPHA:1642
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Prominent nose, ...	OMIM:619503
Acute Myelomonocytic Leukemia	Abnormality of the gingiva, Weight loss	ORPHA:517
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Wide mouth, Long philtrum, Short nose, Failure to thrive	OMIM:608776
Combined Oxidative Phosphorylation Deficiency 25	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Aspiration pneumonia, Long philtrum,...	OMIM:616430
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Dental crowding, Synophrys, Low anterior hairline, Downturned corners of mouth...	OMIM:301044
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Hypert...	OMIM:619479
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Hypoplastic fifth toenail, Ataxia, Supernumerary nipple, Wide anterior ...	ORPHA:457279
Chromosome 14Q11-Q22 Deletion Syndrome	Epicanthus, Depressed nasal bridge, Micrognathia, Inability to walk, Wide nasal bridge, Macroglos...	OMIM:613457
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of the proxi...	OMIM:300166
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Upslanted palpebral fissure, Narrow mouth, Short nose...	OMIM:613735
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis, Weight loss	ORPHA:100024
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh...	OMIM:613038
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Upslanted palpebral fissure, High palate,...	OMIM:617822
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Joint stiffness, Iridocyclitis, Knee osteoarthritis, ...	ORPHA:85408
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Failure to thrive, Depressed nasal bridge, Anteverted nares, Dental crowding, Broad n...	OMIM:617157
Trisomy 10P	Epicanthus, Depressed nasal bridge, Anteverted nares, Small for gestational age, Micrognathia, Ab...	ORPHA:171929
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Craniosynostosis, Oral mucosal blisters, Onychogryposis, Dep...	ORPHA:79396
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Micrognathia, Persistence of hemoglobin F, Everted lower lip vermilion,...	OMIM:617101
Linear Skin Defects With Multiple Congenital Anomalies 3	Lacrimal duct atresia, Failure to thrive, Hyperpigmented streaks, Delayed eruption of primary teeth	OMIM:300952
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Inability to walk, Gait ataxia, Wide mouth, Long phil...	OMIM:103050
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Micrognathia, Hirsutism, Con...	ORPHA:521426
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Protruding ton...	OMIM:619777
Mannosidosis, Alpha B, Lysosomal	Mandibular prognathia, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Low anterior hairli...	OMIM:248500
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Eczema, Delayed eruption of primary teeth, Thin nail, Small for gestational age,...	OMIM:617799
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Inguinal hernia, Scapular winging, Supernumerary nipple, Micrognathia, Pectus excavat...	OMIM:619122
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Coron...	OMIM:612289
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, U-Shaped upper lip vermilion, Coxa valga, Tapered finger, Absent frontal s...	OMIM:301040
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Red hair, Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity	ORPHA:71526
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o...	OMIM:204690
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Lathosterolosis	Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Gingival overgrowth, Downturned corners...	ORPHA:46059
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Depressed nasal bridge, Anteverted nares, Abnormality of the d...	OMIM:271510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Synophrys, High palate, Recurrent aspiration pneumonia, Prominent pal...	ORPHA:280633
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification ...	OMIM:208500
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Cleft palate, Thin ribs, Increased susceptib...	OMIM:253290
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Sparse scalp hair, Depressed nasal bridge, Craniosynostos...	ORPHA:1272
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Hirsutism, Contractures of the large joints, High palat...	OMIM:617527
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Synophrys, Increased femoral an...	OMIM:609460
Cornelia De Lange Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Micromelia, Micrognathia, Synophrys...	ORPHA:199
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Broad ribs, Sclerosis o...	OMIM:269150
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Hypoplasia of the maxilla, Abnormal eyelash morphology, Sparse eyebrow, Widow...	ORPHA:2399
Ring Chromosome 7 Syndrome	Mandibular prognathia, Unilateral ptosis, Low anterior hairline, Abnormality of skin pigmentation...	ORPHA:1449
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Downturned c...	OMIM:259050
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Micrognathia...	ORPHA:1834
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Ver...	OMIM:109400
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio...	OMIM:134780
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Absent nipple, Congenital diaphragm...	OMIM:200980
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Inability to walk, Hypopigmentation of hair, Failure to thrive, Ataxia	ORPHA:70472
Mucolipidosis Type Ii	Hip contracture, Dry hair, Epicanthus, Depressed nasal bridge, Craniosynostosis, Limited wrist mo...	ORPHA:576
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Thickened ribs, Pectus carinatum, Cortical thickening of long ...	ORPHA:309282
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral den...	ORPHA:2720
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Nasal polyposis, Skin rash, Myocarditis, Hy...	ORPHA:183
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hyperconvex nail, Prominent nasal bridge, Bulbous nose, Flexion contracture, Interphalangeal thum...	OMIM:613870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Short nose, Depressed nasal bridge	OMIM:616910
Meckel Syndrome, Type 8	Short nose, Depressed nasal ridge, Cleft palate, Cleft upper lip	OMIM:613885
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Pectus excavatum, White hair, Fine hair, Reduced bone mineral density, Long fibu...	ORPHA:935
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Donnai-Barrow Syndrome	Depressed nasal bridge, Wide anterior fontanel, Widow's peak, Short nose, Downslanted palpebral f...	ORPHA:2143
Cadds	Short nose, Cholangitis, Micrognathia	ORPHA:369942
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short...	OMIM:135900
3C Syndrome	Depressed nasal bridge, Micrognathia, High, narrow palate, Wide nasal bridge, Orofacial cleft, Cl...	ORPHA:7
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Cong...	ORPHA:2311
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Sprengel anomaly	OMIM:601076
Juvenile Huntington Disease	Broad-based gait, Ataxia, Gait ataxia, Weight loss, Progressive cerebellar ataxia	ORPHA:248111
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Trip...	OMIM:105650
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th...	OMIM:614700
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Epistaxis, Ocular ...	ORPHA:79430
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Abnormal location of the eyebrow, Progressive...	ORPHA:522077
Sim1-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Hypopigmentation of hair, Osteopenia, Almond-shape...	ORPHA:398079
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdontia, Sparse ha...	OMIM:613610
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Coarse hair, Umbilical...	OMIM:252900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Depressed nasal bridge, Craniosynostosis	OMIM:614732
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Coxa valga, Micrognathia, Pierre-Robin sequence...	ORPHA:263508
Geleophysic Dysplasia 1	Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Wide mouth, Upslanted pal...	OMIM:231050
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Short philtrum, Everted lower ...	OMIM:601499
Holoprosencephaly 7	Synophrys, Hypoplastic nasal septum, Shallow orbits, Median cleft palate, Hypoplasia of the prema...	OMIM:610828
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Recurrent skin infections, Craniosynostosis, Cleft l...	ORPHA:2953
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High pa...	ORPHA:444077
Lathosterolosis	Epicanthus, Anteverted nares, Micrognathia, Osteoporosis, Wide nasal bridge, Gingival overgrowth,...	OMIM:607330
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Blepharophimosis, Short nose, Ptosis	ORPHA:2031
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Epicanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Large for gestational age, Cl...	OMIM:614080
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Nail dystrop...	ORPHA:3322
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Reticulated skin pigmentation, Osteo...	OMIM:613989
Kbg Syndrome	Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Synophrys, Rib fusion, Low...	OMIM:148050
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Kleefstra Syndrome Due To 9Q34 Microdeletion	Anteverted nares, Highly arched eyebrow, Protruding tongue, Synophrys, Obesity, Downturned corner...	ORPHA:96147
Classic Hodgkin Lymphoma	Skin rash, Osteolysis, Ataxia, Weight loss	ORPHA:391
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Failure to thrive, Inflammation of the large intestine, Enamel hypoplasia, Retrognathia	OMIM:614576
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Downturned corners of mouth, High palate, Short p...	OMIM:617140
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Inguinal hernia, Alopecia, Tapered toe, Sparse eyelashes, Sparse scalp hair, Tape...	ORPHA:544488
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Small for gestational age, Thin bony cor...	OMIM:613658
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, High, narrow palate, Flexion contracture, Femoral bowing, N...	ORPHA:95699
Oculogastrointestinal Muscular Dystrophy	Cachexia, Ptosis	ORPHA:1876
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Epicanthus, Depressed nasal bridge, Anteverted nares, Small for gestational age, Micro...	OMIM:257300
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia, Failure t...	OMIM:607765
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Hypo...	ORPHA:920
Radio-Renal Syndrome	Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology,...	ORPHA:3015
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Synophrys, Hypoplastic vertebral bodies, Coarse hair, Thick v...	OMIM:252940
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Anteverted nares, Clef...	ORPHA:261236
Prader-Willi Syndrome	Narrow nasal bridge, Hypopigmentation of the skin, Hypopigmentation of hair, Osteopenia, Abnormal...	ORPHA:739
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Microdontia, Cleft ...	OMIM:604292
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Cleft palate, High palate,...	ORPHA:93259
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a...	OMIM:173800
Infantile Krabbe Disease	Failure to thrive, Hypopigmented skin patches, Cachexia	ORPHA:206436
Hurler Syndrome	Abnormal clavicle morphology, Camptodactyly of finger, Splenomegaly, Limitation of joint mobility...	ORPHA:93473
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypotriglyceridemia, Hypoc...	OMIM:246700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Broad ribs, Hypopigmentation of the skin, Broad metacarpals, Tapered finger, Cleft lip...	OMIM:301066
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Coxa valga, Micrognathia, Large for gestational age, L...	ORPHA:254519
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Vici Syndrome	Wide nose, Median cleft lip, Depressed nasal bridge, Everted upper lip vermilion, Hypopigmentatio...	OMIM:242840
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, High p...	ORPHA:124
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Telecanthus, Depressed nasal bridge, Underdeveloped ...	ORPHA:79328
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Recurrent bacterial skin infections, Hypopigmentation of hair, ...	OMIM:214500
Rhombencephalosynapsis	Microretrognathia, Anteverted nares, Ataxia, Narrow mouth, Short nose	ORPHA:59315
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Micrognathia, Pectus excavatum, Abno...	ORPHA:2990
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, Trichiasis, Epiblepharon, Triang...	OMIM:618460
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Synophrys, Flexion contracture, Reduced bone mineral density, Coars...	ORPHA:581
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Numerous pigmented freckles, Ataxia, Skin rash, Cachexia	ORPHA:220295
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Pectus excavatum, Hypoplasia of ...	ORPHA:1101
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus ...	OMIM:304050
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Rib fusion, Obesity, Cleft palat...	ORPHA:261197
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Wide nasal bridge, Delayed eruption of permane...	ORPHA:521445
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Anteverted nares, Micrognathia, Spina bif...	ORPHA:233
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Hereditary Methemoglobinemia	Small for gestational age, Lip discoloration, Methemoglobinemia, Abnormality of the nail	ORPHA:621
Giant Cell Arteritis	Pericarditis, Alopecia, Ataxia, Epistaxis, Joint stiffness, Recurrent pharyngitis, Weight loss, A...	ORPHA:397
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Cowden Syndrome 5	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrowed ...	OMIM:615108
Baller-Gerold Syndrome	Narrow nasal bridge, Epicanthus, Failure to thrive in infancy, Prominent nasal bridge, Micrognath...	ORPHA:1225
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose, Coarse metaphyseal trabecularization	OMIM:618961
C Syndrome	Epicanthus, Depressed nasal bridge, Anteverted nares, Accessory oral frenulum, Micrognathia, Abno...	ORPHA:1308
Juvenile Polyposis Of Infancy	Depressed nasal bridge, Cachexia, High, narrow palate, Narrow mouth, Downslanted palpebral fissures	ORPHA:79076
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Genu valgum, Hip...	OMIM:619698
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammation, Nail dystrophy, P...	ORPHA:79403
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Abnormal rib morphology, Abnormal long bone morphology, N...	ORPHA:1163
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mou...	ORPHA:280
Griscelli Syndrome Type 2	Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature...	ORPHA:79477
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Abno...	ORPHA:2363
Toriello-Lacassie-Droste Syndrome	Epicanthus, Generalized hyperpigmentation, Anteverted nares, Telecanthus, Blepharophimosis, Eyeli...	ORPHA:3339
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Few cafe-au-lait spots, Joint laxity, Epicanthus...	OMIM:620330
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Cleft palate, Posterior rib fusion	ORPHA:1797
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Thick hair, Joint stiffness, Inabil...	ORPHA:505248
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Subm...	ORPHA:2282
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Oral ulcer, Uveitis, Weight loss, Concave nasal ridge, Conjun...	OMIM:608710
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Retrognathia, High palate, Joint hypermobility, Thin ribs	ORPHA:456328
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Malar flattening, Short nose, Do...	OMIM:222448
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Conical tooth, Panuveitis, Panniculitis, Optic neuritis	OMIM:301081
Congenital Erythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Scarring alopecia of scalp, Loss ...	ORPHA:79277
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Splenomegaly, Synophrys, Coarse hair, Dense calvaria, Hirsutism	OMIM:252920
Primary Hyperoxaluria	Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab...	ORPHA:416
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Xanthelasma, Abnormal epi...	ORPHA:35687
Wolman Disease	Cachexia	ORPHA:75233
Generalized Pustular Psoriasis	Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderm...	ORPHA:247353
Cowden Syndrome 6	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrowed ...	OMIM:615109
Focal Myositis	Myositis, Limitation of joint mobility, Weight loss	ORPHA:48918
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Failure to thrive, Decreased HDL cholesterol concentration, Abnormal...	ORPHA:14
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Witteveen-Kolk Syndrome	High, narrow palate, Fragile nails, Short philtrum, High palate, Shallow orbits, High anterior ha...	OMIM:613406
Carney Complex, Type 1	Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Lymphangiectasia, Intestinal	Abnormal hair morphology, Pedal edema, Lymphopenia, Prominent floating ribs, Neonatal hypoprotein...	OMIM:152800
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leu...	OMIM:619488
Congenital Tufting Enteropathy	Choanal atresia, Orofacial cleft, Weight loss, Arthritis, Punctate keratitis, Failure to thrive	ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Abnormal subcutaneous fat tissue distribution, Flexion cont...	OMIM:212065
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Huntington Disease	Inability to walk, Weight loss, Abnormality of the sense of smell, Gait disturbance, Gait imbalan...	ORPHA:399
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Postaxia...	OMIM:249000
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ...	ORPHA:373
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Anteverted nares, Limited elbow movement, Micrognathia, Long nose, Cranio...	ORPHA:508533
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Abnormal hemoglobin, Abnormality of the dentition, Joint stiffness, F...	ORPHA:847
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Thin upper lip vermilion, Hypopigmentation of hair, Osteopenia, Almond-shape...	ORPHA:398069
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Widely spaced teeth, Hypodontia, Mic...	ORPHA:90024
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Primary Myelofibrosis	Cachexia	ORPHA:824
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, Hypoplastic toenails, High, narrow palate, Abnorma...	ORPHA:2753
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Weight loss, Arthritis, Inflam...	ORPHA:29207
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Microdontia, Everted lower lip vermilion, Hypodontia	ORPHA:782
Cowden Syndrome 1	Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Furrowed ...	OMIM:158350
Dend Syndrome	Anteverted nares, Bilateral ptosis, Downturned corners of mouth, Long philtrum, Short nose	ORPHA:79134
Pfeiffer Syndrome Type 1	High palate, Short nose, Depressed nasal bridge, Bicoronal synostosis	ORPHA:93258
Leishmaniasis	Weight loss, Rhinitis, Abnormal oral mucosa morphology, Abnormal oral cavity morphology	ORPHA:507
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Small for gestational age, Persistence of prim...	ORPHA:2044
Macrocephaly-Intellectual Disability-Autism Syndrome	Short nose, Cafe-au-lait spot, Depressed nasal bridge	ORPHA:210548
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Ataxia, Prominent nasal bridg...	ORPHA:163746
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Short philtrum, Clinodactyly of th...	ORPHA:52
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Postaxial hand po...	OMIM:617088
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per...	ORPHA:727
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Weight loss, Knee flexion contracture, Pigmentary retinopathy, Loss of ambulation	ORPHA:3208
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Abnormal oral cavity morphology	ORPHA:704
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Ogden Syndrome	Micrognathia, Abnormal eyelid morphology, Deep philtrum, Short philtrum, High palate, Thick upper...	OMIM:300855
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th...	ORPHA:1120
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Mal...	ORPHA:86818
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse...	ORPHA:306542
Geleophysic Dysplasia 2	Thin upper lip vermilion, Joint stiffness, Limitation of joint mobility, Tip-toe gait, Long philt...	OMIM:614185
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxia...	OMIM:263520
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Pedal edema...	ORPHA:98754
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Narrow mouth, Humeroradial synostosis, Abnormal ri...	ORPHA:3404
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Bloom Syndrome	Skin rash, Pneumonia, Sparse eyelashes, Micrognathia, Small for gestational age, Paronychia, Chei...	ORPHA:125
Deeah Syndrome	Epicanthus, Decreased body weight, Narrow palate, Low posterior hairline, High palate, Short phil...	OMIM:619004
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Small ...	ORPHA:177901
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose, Small for gestational age	ORPHA:289266
Bone Dysplasia, Lethal Holmgren Type	Anteverted nares, Depressed nasal ridge, Weight loss, Joint hyperflexibility, Failure to thrive	ORPHA:1842
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Enanthema, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstiti...	ORPHA:139402
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Cleft soft palate, Flexion contracture, Downturned corners of mou...	OMIM:619321
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Pedal edema...	ORPHA:98793
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Microdontia, Medial flaring of the ey...	OMIM:194050
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Wide mouth, Long philtrum, Prominent f...	ORPHA:251061
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Spina bifida occulta, Downturned corners of mouth, Wide mouth, Upslanted ...	OMIM:301030
Reticular Dysgenesis	Chronic otitis media, Failure to thrive, Skin rash, Weight loss	ORPHA:33355
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small for gestational age, Small hand, Obesity, Pedal edema...	ORPHA:177904
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Toriello-Carey Syndrome	Telecanthus, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Cleft palate, High palate, Sho...	ORPHA:3338
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Thick eyebrow, Tapered finger	OMIM:618367
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Gaucher Disease	Osteopenia, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Ele...	ORPHA:355
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Hyperconvex fingernails, Short philtr...	OMIM:194190
Wilson Disease	Increased body weight, Hepatitis, Weight loss, Arthritis, Difficulty walking, Acute hepatitis, Fa...	ORPHA:905
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Eunuchoid habitus, Hypoplasia of the maxilla, Sparse pubic hair, Breast ap...	ORPHA:3044
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Cleft palate, Low posterior hairline, Cervical C2/C3 vertebral fusion, S...	OMIM:118100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Abnormality of skin pigmentation, Short philtrum, High palate, Ot...	OMIM:619475
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Hypoplastic toenail...	ORPHA:904
Osteosarcoma	Pathologic fracture, Osteolysis, Weight loss	ORPHA:668
Shwachman-Diamond Syndrome 2	Normocytic anemia, Anterior rib cupping, Thrombocytopenia, Metaphyseal widening, Neutropenia, Hig...	OMIM:617941
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Pes planus, Mandibular prognathia, Joint laxity, Overlapping...	OMIM:617402
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Ataxia, Uveitis, Arthritis, Conjunctivitis, Irregular hyperpigmentation,...	ORPHA:36412
Charge Syndrome	Delayed eruption of teeth, Talipes, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate ...	ORPHA:138
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Pneumonia, Recurrent pneumonia, Weight loss, Arthritis, Gait...	ORPHA:420741
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Weight loss, Slender build, Cachexia, Ptosis	OMIM:603041
Arterial Tortuosity Syndrome	Craniosynostosis, Abnormal zygomatic bone morphology, Myocarditis, Joint hyperflexibility, Esopha...	ORPHA:3342
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Ptosis	ORPHA:3217
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Immunodeficiency 27A	Increased inflammatory response, Salmonella osteomyelitis, Pneumonia, Weight loss	OMIM:209950
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Thick eyebrow, Epicanthus, Exaggerated cupid's bow, Wide nasal bridge, Fus...	OMIM:300896
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Large for gestational age, Prominent fin...	OMIM:229850
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Cleft palate, High palate,...	ORPHA:93260
Trisomy 8P	Multiple joint contractures, Depressed nasal bridge, Anteverted nares, Recurrent upper respirator...	ORPHA:264450
Okamoto Syndrome	Exaggerated median tongue furrow, Ptosis, Tented upper lip vermilion, Depressed nasal bridge, Ant...	ORPHA:2729
Chronic Hiccup	Weight loss	ORPHA:396
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Small for gestational age, Prominent nasal bridge, Cleft soft palate, Broad nas...	ORPHA:268261
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Oral ulcer, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, High palate, Joint hypermobility, Thin ribs	OMIM:300219
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Limitation of ...	ORPHA:728
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Bronchiectasis, Weight loss	ORPHA:1164
Eosinophilic Fasciitis	Arthritis, Fasciitis, Weight loss, Myositis	ORPHA:3165
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Takayasu Arteritis	Increased inflammatory response, Weight loss, Inflammatory abnormality of the eye, Arthritis	ORPHA:3287
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Wide nose, Hip contracture, Prominent nasal bridge,...	OMIM:606170
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Bifid uvula, Hypoplasia o...	OMIM:218600
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Branchiooculofacial Syndrome	Micrognathia, Premature graying of hair, Sparse hair, Depressed nasal bridge, Cleft upper lip, Fu...	OMIM:113620
Severe Congenital Nemaline Myopathy	Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con...	ORPHA:171430
Noonan Syndrome 3	Hypoplastic nasal bridge, Epicanthus, Anteverted nares, Sagittal craniosynostosis, High palate, L...	OMIM:609942
Pallister-Hall Syndrome	Large for gestational age, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, ...	ORPHA:672
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Increased skull ossification, Pneumonia	ORPHA:85179
Cockayne Syndrome Type 3	Dry hair, Carious teeth, Flexion contracture, Unsteady gait, Premature graying of hair, Keratocon...	ORPHA:90324
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Epicanthus, Joint stiffness, Micrognathia, Epicanthus inversus, Upslan...	OMIM:618820
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Epicanthus, Telecanthus, Anteverted nares, Broad nasal tip, Long nose, Carious teeth, Bulbous nos...	OMIM:619522
Diamond-Blackfan Anemia 10	Macrocytic anemia, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic hernia, ...	OMIM:613309
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Prominence of the premaxilla, Arachnodactyly, Congenital diaphragmatic hernia, M...	OMIM:614437
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Huntington Disease-Like 1	Gait ataxia, Gait disturbance, Dysmetria, Weight loss	ORPHA:157941
Glossopharyngeal Neuralgia	Weight loss, Mandibular pain, Abnormal palate morphology, Tongue pain	ORPHA:221098
Isaacs Syndrome	Weight loss	ORPHA:84142
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Uveitis, Asymmetry of iris pigmentation, Iritis, Multiple cafe-a...	ORPHA:158000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Recurrent skin infections, Glomerulonephritis, Foot joint con...	ORPHA:79408
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Decreased body weight, Flexion contracture, Thin ribs	OMIM:614833
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Flexion contracture, Hyperpigmented streaks, Hypopigmen...	OMIM:601803
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Fine...	ORPHA:3474
Leprosy	Absent eyebrow, Alopecia, Epistaxis, Loss of eyelashes, Abnormal facial skeleton morphology, Uvei...	ORPHA:548
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Oral ulcer, Uveitis, EBV encephalitis	OMIM:615122
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia	ORPHA:71
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Atopic dermatitis, Weight loss, Recurrent u...	ORPHA:171876
Jacobsen Syndrome	Epicanthus, Ectropion, Anteverted nares, Eczema, Wide nasal bridge, Abnormal palate morphology, A...	ORPHA:2308
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Alopecia, Recurrent skin infections, Pneumonia, Abnormal oral mucosa morp...	ORPHA:79404
Gm1-Gangliosidosis, Type I	Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Gingival ...	OMIM:230500
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla...	ORPHA:2673
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Retrobulbar opti...	ORPHA:117
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Long clavicles, Overlapping toe, Arachnodactyly, Severe B lymphocytopenia, Micro...	ORPHA:83617
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Talipes equinovarus, Failu...	ORPHA:2970
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Joint laxity, Telecanthus, Recurrent skin infections...	OMIM:601776
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ptosis, Supernumerary nipple, Submucous cleft hard palate, Wide nasal ...	OMIM:235730
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Limb ataxia, Bacterial endocarditis...	ORPHA:2072
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormal rib morphology, Obesity, Sparse body hair	ORPHA:2234
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Phocomelia, Schinzel Type	Micrognathia, High, narrow palate, Humeroradial synostosis, Cleft palate, Nail dysplasia, Short nose	ORPHA:2879
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morph...	ORPHA:2519
Aggressive Systemic Mastocytosis	Maculopapular exanthema, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture	ORPHA:98850
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Non-m...	ORPHA:887
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin, Eczema	ORPHA:79254
Mietens Syndrome	Wide nose, Joint stiffness, Wide nasal bridge, Short nose, Elbow ankylosis	ORPHA:2557
Huntington Disease-Like 2	Weight loss	OMIM:606438
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Pes planus, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ac...	OMIM:225400
Opsismodysplasia	Abnormally ossified vertebrae, Short nose, Depressed nasal bridge, Joint stiffness	ORPHA:2746
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Interface hepatitis, Enamel hypoplasia, Psoriasiform dermatitis, Enterocolitis	OMIM:243150
Lysosomal Acid Lipase Deficiency	Xanthelasma, Failure to thrive, Cachexia, Weight loss	ORPHA:275761
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, Failure to thrive, Joint hype...	ORPHA:85410
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum, Bifid uvula, Arachnodacty...	ORPHA:500150
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Osteoporosis, Weight loss, Arthritis, Stiff interphalangeal joints, Generalized ...	ORPHA:465508
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis	OMIM:277450
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Widely spaced tee...	ORPHA:2152
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short nail, Cone-shaped epiphyses of the phalanges of the ha...	ORPHA:420794
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Splenomegaly, Metaphyseal w...	OMIM:219800
Warburg Micro Syndrome 2	Short nose, Flexion contracture, Low anterior hairline, Prominent nasal bridge	OMIM:614225
Insulin-Resistance Syndrome Type B	Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight...	ORPHA:2298
Kaposi Sarcoma	Skin rash, Hypermelanotic macule, Weight loss	ORPHA:33276
Fanconi Anemia	Epicanthus, Choanal atresia, Micrognathia, Aplasia/Hypoplasia of the uvula, Almond-shaped palpebr...	ORPHA:84
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B...	ORPHA:261537
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Dental crowding, Ankle flexion contracture, Micrognathia, Fle...	ORPHA:2020
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Short nose, Bilatera...	OMIM:619859
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Low posterior hairline	ORPHA:2578
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Small for gestational age, Narrow nasal ridge, Dysmetria, Gait ataxia, Pigment...	OMIM:606721
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Inguinal hernia, Thickened ribs, Abnormal dental morphology,...	ORPHA:217085
Acute Promyelocytic Leukemia	Epistaxis, Gingival overgrowth, Weight loss, Gingival bleeding, Stomatitis	ORPHA:520
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B...	ORPHA:261552
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Absent lacrimal punctum, Lacrimal gland aplasia, Lacrimal gland hypoplasia	OMIM:180920
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral ptosis, Weight loss, Downturned corners of mouth, Lower-limb joint contracture,...	ORPHA:99885
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Inguinal hernia, Thickened ribs, Abnormal dental morphology,...	ORPHA:217093
Cinca Syndrome	Retrobulbar optic neuritis, Inflammatory abnormality of the eye, Uveitis, Reduced bone mineral de...	ORPHA:1451
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Retrognathia	ORPHA:314621
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Oral ulcer, Weight loss, Arthritis, Inflammation ...	OMIM:301074
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ...	OMIM:607323
Polycythemia Vera	Myelofibrosis, Weight loss, Epistaxis, Gingival bleeding	ORPHA:729
Sotos Syndrome	No permanent dentition, Flexion contracture, Pedal edema, Hypopigmentation of the skin, Joint lax...	ORPHA:821
Polymyositis	Arthritis, Pericarditis, Gait disturbance, Weight loss	ORPHA:732
Autosomal Dominant Centronuclear Myopathy	Large for gestational age, Abnormality of the foot musculature, Thin ribs, Calf muscle hypertroph...	ORPHA:169189
Cinca Syndrome	Arthritis, Skin rash, Uveitis	OMIM:607115
Graves Disease, Susceptibility To, 1	Onycholysis, Weight loss	OMIM:275000
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss	ORPHA:26790
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Juvenile Dermatomyositis	Alopecia, Myositis, Skin rash, Pericarditis, Palpebral edema, Limitation of joint mobility, Weigh...	ORPHA:93672
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Sparse hair, Wr...	OMIM:268300
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs	OMIM:615220
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,...	ORPHA:79128
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Gaucher Disease Type 3	Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Norrie Disease	Narrow nasal bridge, Cachexia, Thin vermilion border, Malar flattening, Failure to thrive	ORPHA:649
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Epicanthus, Depressed nasal bridge, Ante...	OMIM:312870
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Hypermelanotic macule, Orchitis, Recurrent pharyngi...	ORPHA:32960
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Block vertebrae, Rib fusion	OMIM:277300
Pleural Mesothelioma	Weight loss	ORPHA:50251
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat...	OMIM:309800
Rheumatoid Arthritis	Weight loss, Rheumatoid arthritis, Joint stiffness	OMIM:180300
Follicular Lymphoma	Weight loss	ORPHA:545
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Abnormality of the orbital regi...	ORPHA:79078
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Failure to thrive	OMIM:617388
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Bone cyst, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, Arthrit...	OMIM:181000
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Wide nasal bridge, ...	ORPHA:84064
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia	OMIM:609734
Thymic Carcinoma	Palpebral edema, Weight loss	ORPHA:99868
Refractory Celiac Disease	Inflammatory abnormality of the skin, Osteoporosis, Weight loss	ORPHA:398063
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Abnormality of th...	ORPHA:900
Imerslund-Gräsbeck Syndrome	Failure to thrive, Glossitis, Angular cheilitis, Weight loss	ORPHA:35858
Late-Onset Isolated Acth Deficiency	Hepatitis, Generalized bone demineralization, Weight loss, Failure to thrive, Hashimoto thyroidit...	ORPHA:199299
Perry Syndrome	Short stepped shuffling gait, Akinesia, Weight loss	OMIM:168605
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Pericarditis, Chilblains, Osteoporosis, Weight loss, Failure to thrive	OMIM:619487
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Keratoconjunctivitis sicca, Colitis	ORPHA:309031
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Parathyroid Carcinoma	Mandibular pain, Pancreatitis, Osteoporosis, Weight loss	ORPHA:143
Oculopharyngodistal Myopathy 1	Ataxia, Bilateral ptosis, Weight loss, High palate, Difficulty walking, Ptosis	OMIM:164310
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Dacryocystitis, Th...	ORPHA:31204
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Palpebral edema, Ataxia, Pustule, Myocarditis, Oral ulcer, Weight loss, Enla...	ORPHA:50918
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell...	OMIM:613686
Distal Deletion 12Q	Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Fine hair, Small nail, ...	ORPHA:96149
Benign Recurrent Intrahepatic Cholestasis	Pancreatitis, Weight loss	ORPHA:65682
Acrocephalopolydactylous Dysplasia	Upslanted palpebral fissure, Epicanthus, Short nose, Craniosynostosis	OMIM:200995
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Horner syndrome, Weight loss	OMIM:256700
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Sarcoidosis	Abnormal nasal mucosa morphology, Alopecia, Maculopapular exanthema, Hyperpigmentation of the ski...	ORPHA:797
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Retinal pigment epithelial mottling, Dysmetria, Gait ataxia, Weight los...	OMIM:607459
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Osteomalacia, Bronchie...	OMIM:619381
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphys...	OMIM:157800
Acromesomelic Dysplasia 1	Joint laxity, Short nose, Limited elbow extension, Short nail	OMIM:602875
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Osteomalacia, Camptodactyly of finger, Rickets, Pathologic fracture, Enamel hy...	OMIM:309000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Talipes, Hypoplasia of the premaxilla, Micrognathia, Postaxial hand polydactyly, Oro...	ORPHA:2166
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly	OMIM:184400
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Rhabdoid Tumor	Weight loss	ORPHA:69077
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Nail dystrophy, Hypocholesterolemia, Thrombocyt...	ORPHA:31150
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Thymic Neuroendocrine Tumor	Osteopenia, Weight loss	ORPHA:97289
Eosinophilic Gastroenteritis	Atopic dermatitis, Allergic rhinitis, Weight loss	ORPHA:2070
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Weight loss	ORPHA:3226
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Abnormality of the spleen, Osteolysis, Abnormal long bone morphology...	ORPHA:228123
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
1P36 Deletion Syndrome	11 pairs of ribs, Abnormal eyebrow morphology, Camptodactyly of finger, Lower limb asymmetry, Joi...	ORPHA:1606
Polyarteritis Nodosa	Pericarditis, Weight loss	ORPHA:767
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Small for gestational age, Pneumonia, Glomerulonep...	ORPHA:1304
Perry Syndrome	Weight loss	ORPHA:178509
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Coat hanger sign of ribs, Umbi...	ORPHA:254534
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Peters Plus Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Micr...	ORPHA:709
Shigellosis	Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, A...	ORPHA:810
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ...	ORPHA:99867
Immunodeficiency 31C	Osteopenia, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous candidiasis, Weight loss...	OMIM:614162
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion	OMIM:608681
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard...	ORPHA:781
Osteootohepatoenteric Syndrome	Weight loss, Failure to thrive, Recurrent fractures, Reduced bone mineral density	OMIM:619377
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Weight loss	ORPHA:411703
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Cleft upper...	OMIM:607872
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Pathologic fracture	OMIM:259900
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i...	ORPHA:449395
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Arachnodactyly, Rocker bottom foot, Tarsal sy...	OMIM:201750
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Pancreatitis, Weight loss	ORPHA:188
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t...	OMIM:214800
Gerstmann-Straussler Disease	Gait ataxia, Truncal ataxia, Limb ataxia, Weight loss	OMIM:137440
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Abnormal rib morphology, Pigmentary retinopathy, Hy...	OMIM:118450
Pneumocystosis	Acute infectious pneumonia, Interstitial pneumonitis, Weight loss, Chronic oral candidiasis	ORPHA:723
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Pilomatrixoma, Supernumerary tooth	ORPHA:247806
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss	ORPHA:2902
Igg4-Related Aortitis	Increased inflammatory response, Weight loss	ORPHA:449400
Nodular Non-Suppurative Panniculitis	Panniculitis, Inflammatory abnormality of the eye, Weight loss	ORPHA:33577
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
17Q11 Microdeletion Syndrome	Osteopenia, Hypermelanotic macule, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dyspl...	ORPHA:97685
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis	OMIM:617044
Secondary Short Bowel Syndrome	Failure to thrive, Enterocolitis, Weight loss	ORPHA:95427
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Hyperpigmentation o...	ORPHA:95455
Loeffler Endocarditis	Pericarditis, Weight loss	ORPHA:75566
Fatal Familial Insomnia	Ataxia, Weight loss	OMIM:600072
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of...	OMIM:164210
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Peroxisome Biogenesis Disorder 4B	Short nose, Ataxia, Gait disturbance	OMIM:614863
Dextrocardia	Abnormal foot morphology, Abnormality of the spleen, Congenital hip dislocation, Abnormal rib mor...	ORPHA:1666
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Bronchiectasis, Uveitis	OMIM:612387
Addison Disease	Failure to thrive, Sparse axillary hair, Weight loss, Generalized bone demineralization, Hashimot...	ORPHA:85138
Cystic Echinococcosis	Membranous nephropathy, Bone cyst, Weight loss	ORPHA:400
Lynch Syndrome	Flexion contracture, Gait disturbance, Weight loss	ORPHA:144
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Solitary Fibrous Tumor	Hypophosphatemic rickets, Weight loss	ORPHA:2126
Alveolar Echinococcosis	Ataxia, Cholangitis, Bone cyst, Weight loss, Cutaneous abscess	ORPHA:284
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Arteritis, Ptosis	ORPHA:679
Familial Colorectal Cancer Type X	Flexion contracture, Gait disturbance, Weight loss	ORPHA:440437
Adrenocortical Carcinoma	Weight loss, Increased body weight, Hypertrichosis	ORPHA:1501
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Hypodontia, Mic...	OMIM:180500
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Hereditary Late-Onset Parkinson Disease	Hyposmia, Shuffling gait, Akinesia, Weight loss	ORPHA:411602
Al Amyloidosis	Macroglossia, Abnormal salivary gland morphology, Weight loss	ORPHA:85443
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eyelid morphology, Myocarditis, Weight loss, Arthr...	ORPHA:221
Ménétrier Disease	Giant hypertrophic gastritis, Weight loss	ORPHA:2494
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Weight loss, Pancr...	ORPHA:171
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly...	ORPHA:857
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs	OMIM:271520
Systemic Mastocytosis With Associated Hematologic Neoplasm	Weight loss, Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Choreoacanthocytosis	Temporomandibular joint crepitus, Protruding tongue, Weight loss, Blepharospasm, Arthritis, Falls...	ORPHA:2388
Liposarcoma	Weight loss	ORPHA:69078
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Rift Valley Fever	Skin rash, Hepatitis, Uveitis, Gingival bleeding, Infectious encephalitis	ORPHA:319251
Familial Glucocorticoid Deficiency	Failure to thrive, Generalized hyperpigmentation, Weight loss	ORPHA:361
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,...	ORPHA:3261
Pseudo-Torch Syndrome 2	Thrombocytopenia, Thin ribs	OMIM:617397
Cogan Syndrome	Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:1467
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Weight loss, Membranou...	ORPHA:49041
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Budd-Chiari Syndrome	Peritonitis, Cholecystitis, Weight loss	ORPHA:131
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palat...	ORPHA:434179
Malt Lymphoma	Abnormal nasolacrimal system morphology, Posterior uveitis, Weight loss	ORPHA:52417
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Osteopenia, Osteoporosis, Weight loss, Ptosis	ORPHA:91347
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
African Trypanosomiasis	Pericarditis, Alopecia, Akinesia, Keratitis, Myocarditis, Weight loss, Choreoathetosis, Optic neu...	ORPHA:3385
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ataxia, Weight loss	ORPHA:20
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Oral ulcer, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial neph...	ORPHA:93126
Beta-Ketothiolase Deficiency	Ataxia, Weight loss	ORPHA:134
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight lo...	ORPHA:99921
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Weight loss, ...	OMIM:615846
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Acute Adrenal Insufficiency	Sparse axillary hair, Weight loss, Failure to thrive, Hyperpigmentation of the skin, Vitiligo	ORPHA:95409
Stevens-Johnson Syndrome	Entropion, Conjunctivitis, Pancreatitis, Weight loss	ORPHA:36426
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Ptosis	ORPHA:100085
Peripheral Primitive Neuroectodermal Tumor	Pancreatitis, Weight loss	ORPHA:370348
Nephroblastoma	Weight loss	ORPHA:654
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Abnormality of retinal pigmentation, Skin rash, Inter...	ORPHA:91500
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Acne, Hyperpigmentation of the skin, Intra-oral hyperpigmentation, Osteoporosi...	ORPHA:99889
Toxic Epidermal Necrolysis	Entropion, Conjunctivitis, Pancreatitis, Weight loss	ORPHA:537
Bronchial Neuroendocrine Tumor	Pneumonia, Weight loss	ORPHA:97287
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss	ORPHA:1018
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Multiple Myeloma	Osteopenia, Pathologic fracture, Weight loss	ORPHA:29073
Multiple Endocrine Neoplasia Type 1	Osteolysis, Gingival fibromatosis, Increased susceptibility to fractures, Large cafe-au-lait macu...	ORPHA:652
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Weight loss	ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Acute colitis, Weight loss	ORPHA:67
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Pontine Tegmental Cap Dysplasia	Ankle clonus, Failure to thrive, Rib fusion	OMIM:614688
Caroli Disease	Conjunctival icterus, Cholangitis, Weight loss	ORPHA:53035
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565
Glucagonoma	Stomatitis, Weight loss, Glossitis, Skin rash	ORPHA:97280
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Micrognathia	OMIM:619525
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Weight loss	ORPHA:29072
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Castleman Disease	Myelofibrosis, Weight loss	ORPHA:160
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Supernumerary ribs, Vertebral hypoplasia	OMIM:206900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss	ORPHA:54251
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Weight loss	ORPHA:764
Retinoblastoma	Abnormality of retinal pigmentation, Uveitis, Heterochromia iridis, Cleft palate	ORPHA:790
Pulmonary Alveolar Microlithiasis	Stippled calcification in carpal bones, Bronchiectasis, Weight loss	ORPHA:60025
Antiphospholipid Syndrome, Familial	Keratitis, Scleritis, Iritis	OMIM:107320
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the sp...	ORPHA:991
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Arthritis, Conjunctival hype...	ORPHA:99826
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Gallbladder Neuroendocrine Tumor	Cholecystitis, Weight loss	ORPHA:100086
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ...	OMIM:157170
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Klatskin Tumor	Weight loss	ORPHA:99978
Amoebic Keratitis	Scleritis, Anterior uveitis	ORPHA:67043
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Frontal balding, Weight loss, Failure to thrive, Hirsutism	ORPHA:90794
Tropical Pancreatitis	Chronic calcifying pancreatitis, Weight loss	ORPHA:103918
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Familial Thrombocytosis	Weight loss	ORPHA:71493
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Zollinger-Ellison Syndrome	Esophagitis, Weight loss	ORPHA:913
Familial Pancreatic Carcinoma	Weight loss	ORPHA:1333
Leptospirosis	Pericarditis, Skin rash, Hepatitis, Uveitis, Optic neuritis, Conjunctival hyperemia	ORPHA:509
Ileal Neuroendocrine Tumor	Weight loss	ORPHA:100078
Ppoma	Weight loss	ORPHA:97278
Somatostatinoma	Weight loss	ORPHA:97283
Pancreatoblastoma	Weight loss	ORPHA:677
Grfoma	Weight loss	ORPHA:97261
Vipoma	Weight loss	ORPHA:97282
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Uveitis	OMIM:221900
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49
Goodpasture Syndrome	Glomerulonephritis, Weight loss	OMIM:233450

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 Ostm1

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 Ostm1.

No publications found that use IMPC mice or data for Ostm1.

Order Mouse and ES Cells

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
Ostm1^{tm42469(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ostm1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	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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