Gene Summary

Name:
notum palmitoleoyl-protein carboxylesterase
Synonyms:
5730593N15Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small ovary Notumem1(IMPC)Tcp HET Late adult 0.00
small spleen Notumem1(IMPC)Tcp HET Late adult 0.00
abnormal uterus morphology Notumem1(IMPC)Tcp HET Early adult 0.00
decreased exploration in new environment Notumem1(IMPC)Tcp HET Early adult 6.87×10-07
abnormal kidney morphology Notumem1(IMPC)Tcp HOM Early adult 0.00
abnormal cholesterol homeostasis Notumem1(IMPC)Tcp HET   Early adult 6.00×10-05
preweaning lethality, incomplete penetrance Notumem1(IMPC)Tcp HOM   Early adult 0.00
decreased grip strength Notumem1(IMPC)Tcp HET Late adult 4.86×10-05
small uterus Notumem1(IMPC)Tcp HET Late adult 0.00
cataract Notumem1(IMPC)Tcp HET   Late adult 5.96×10-07
abnormal brain morphology Notumem1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

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.

Histopathology

Images

20 Images

Eye Morphology

Images Ophthalmoscopy

157 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Gross Morphology Embryo E18.5

Images

4 Images

Eye Morphology

Images Slit Lamp

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

12 Images

Immunophenotyping

Panel B FCS file(s)

7 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Gross Pathology and Tissue Collection

Images

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Histopathology

Images

3 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Notum 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Regional Odontodysplasia
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... ORPHA:83450
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia OMIM:601612
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia ORPHA:3346
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Trichodentoosseous Syndrome
Microdontia, Widely spaced teeth, Taurodontia, Increased bone mineral density OMIM:190320
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... ORPHA:166277
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Bronchitis, Pneumonia, Atelectasis, Abnormal tracheobron... ORPHA:3348
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Dentinogenesis im... ORPHA:71267
Osteogenesis Imperfecta, Type V
Joint hypermobility, Recurrent fractures, Abnormality of the dentition, Anterior radial head disl... OMIM:610967
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Odontochondrodysplasia 1
Joint hypermobility, Nephronophthisis, Short phalanx of finger, Flared iliac wing, Flat acetabula... OMIM:184260
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Death in infancy, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormal renal tubule morphology, Abnormality of dental morphology, A... ORPHA:2785
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary teeth, Cariou... OMIM:265800
Otodental Dysplasia
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia OMIM:166750
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition ORPHA:1094
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge ORPHA:2321
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... ORPHA:210110
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Odontochondrodysplasia
Delayed eruption of teeth, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, ... ORPHA:166272
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... ORPHA:89936
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Hyperostosis, Clinodactyly of the 3rd toe, Epiphyseal str... OMIM:604922
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Bowing of lim... OMIM:259440
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Laryngomalacia ORPHA:93941
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Generalized microdontia, Taurodontia OMIM:104530
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Finger clinodactyly, Periapical tooth abscess, Agenesis of incis... ORPHA:3352
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... ORPHA:2790
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Osteomyelitis, Abnormality of epiphysis morphology, Recurrent fractur... ORPHA:53
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Tracheal stenosis OMIM:601427
Pyle Disease
Delayed eruption of teeth, Carious teeth, Genu valgum, Limited elbow extension, Mandibular progna... OMIM:265900
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mineral density, P... OMIM:259700
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Periodontitis, Moder... OMIM:619269
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hip dyspl... ORPHA:10
Keutel Syndrome
Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Calc... ORPHA:85202
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Decreased calvarial ossification, Recurrent fractures, Severe generalized os... OMIM:259420
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoi... OMIM:259710
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Osteopenia, Down-sloping shoulders, Recurrent fractures ORPHA:91133
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Meta... OMIM:234250
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Pendred Syndrome
Nephropathy, Tracheal stenosis ORPHA:705
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Trichodental Dysplasia
Conical tooth, Odontodysplasia, Hypodontia OMIM:601453
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Short phalanx of finger, Joint laxity, Recurrent mandibular subluxations, Ging... OMIM:225410
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Puncta... OMIM:226670
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness ORPHA:2871
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Increased bone mineral density ORPHA:178377
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Atypical scarring of skin, Syndactyly, Small for ... ORPHA:294975
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Osteoporosis
Osteoporosis OMIM:166710
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Vesicoureteral reflux, Unilateral renal agenesis, Abnormal cortical bon... ORPHA:2512
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Osteogenesis Imperfecta, Type Xi
Protrusio acetabuli, Joint laxity, Abnormality of the dentition, Coxa vara, Increased susceptibil... OMIM:610968
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short metacarpal, B... OMIM:612463
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Neutropenia, Increas... OMIM:246550
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Atrophic scars, Oral mucosal bli... ORPHA:79405
Taurodontism
Taurodontia OMIM:272700
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hip dysplasia, Inflammation of the large intestine, Hyperechogenic kidneys, Pr... OMIM:614576
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Horseshoe kidney, Overlapping toe, Camptodactyly, Patent ductus arteriosus, Smooth... ORPHA:363444
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Chops Syndrome
Horseshoe kidney, Short nose, Laryngomalacia, Vesicoureteral reflux, Aspiration pneumonia, Trache... OMIM:616368
Hurler-Scheie Syndrome
Tracheal stenosis, Recurrent respiratory infections, Depressed nasal bridge OMIM:607015
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Osteogenesis Imperfecta, Type X
Genu valgum, Joint laxity, Generalized joint laxity, Bowing of the long bones, Osteopenia, Inguin... OMIM:613848
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... OMIM:144750
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
48,Xxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96263
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Dislocated radial head, Abnormal renal morphology, Radioulnar s... ORPHA:99329
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Pulp calcification, Taurodontia, Subperiosteal bone formation, Hyperostosis, N... OMIM:211900
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters, Anemia ORPHA:79402
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... ORPHA:90650
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Taurodontia, Thick lower li... ORPHA:2563
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture, Cutaneous finger syn... OMIM:203550
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Melorheostosis
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Preaxial polydactyly, Patent ductus arteriosus, Postaxial polydactyly, Unila... OMIM:618142
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short ... OMIM:101800
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Larsen-Like Syndrome, Lethal Type
Abnormal cartilage matrix, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Microretrognathia, Dentinogenesis imperfecta, Narrow iliac wing, Cor... OMIM:616294
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Bulging epiphyses, Subperiosteal bone resorption, D... OMIM:264700
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Flared... OMIM:215045
Aniridia 3
Cataract OMIM:617142
Cerebellofaciodental Syndrome
Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone, Dental malocc... OMIM:616202
Hypophosphatemic Rickets
Hyperostosis, Hypercalciuria, Joint stiffness, Renal insufficiency, Renal phosphate wasting, Hypo... ORPHA:437
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Fraser Syndrome 3
Tracheal atresia, Wide nose, Abnormal lung lobation OMIM:617667
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Bulging epiphyses, Delayed epiphysea... OMIM:277440
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Congenital hip dislocation, Dental c... ORPHA:96170
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Carious teeth, Allergic rhinitis, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Atrophic scars, Carious teeth, Failure to thrive OMIM:226700
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Joint laxity, Congenital hip dislocation, Atypical scarring of skin OMIM:229200
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Majeed Syndrome
Metaphyseal irregularity, Weight loss, Increased bone mineral density, Increased susceptibility t... ORPHA:77297
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Osteogenesis Imperfecta, Type I
Joint hypermobility, Recurrent fractures, Increased susceptibility to fractures, Dentinogenesis i... OMIM:166200
Geleophysic Dysplasia 3
Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Tracheal stenosis, Anteverted na... OMIM:617809
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Genu valgum, Microretrognathia, Pierre-Robin sequence, To... OMIM:618363
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephroti... OMIM:618349
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Craniosynostosis, Abnormal dental enamel morphology, Enlarged kidney, ... ORPHA:251004
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Skin rash, Craniosynostosis, Eczematoid dermatitis, Recurrent fractures, Per... OMIM:147060
Laryngomalacia
Abnormal trachea morphology, Laryngomalacia OMIM:150280
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96264
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Smith-Magenis Syndrome
Delayed eruption of primary teeth, Short philtrum, Hand polydactyly, Toe syndactyly, Open mouth, ... ORPHA:819
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Abnormal palate morphology, Unilateral renal agene... ORPHA:245
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Trachea... ORPHA:3301
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Lethal Recessive Chondrodysplasia
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Hip dysplasia, Long philtrum, Thin vermilion border, Bifid distal phalanx of toe, Limited elbow e... OMIM:618419
Camurati-Engelmann Disease
Slender build, Genu valgum, Carious teeth, Mandibular prognathia, Cortical thickening of long bon... OMIM:131300
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Braddock Syndrome
Preaxial hand polydactyly, Micrognathia, Unilateral renal agenesis, Failure to thrive ORPHA:52047
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Buschke-Ollendorff Syndrome
Craniosynostosis, Abnormality of epiphysis morphology, Atypical scarring of skin, Flexion contrac... ORPHA:1306
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Ck Syndrome
Slender build, Joint hypermobility, Dental crowding, Abnormal cortical bone morphology, Abnormal ... OMIM:300831
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria OMIM:202900
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, High palate, Mic... OMIM:613849
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth ORPHA:2222
Vacterl/Vater Association
Laryngomalacia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Congenital diaphra... ORPHA:887
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Hypomandibular Faciocranial Dysostosis
Short nose, Laryngeal hypoplasia, Death in infancy, Abnormal tracheobronchial morphology, Trachea... ORPHA:1790
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele, Increased body ... OMIM:614450
Takenouchi-Kosaki Syndrome
Long philtrum, Short philtrum, Downturned corners of mouth, Overlapping toe, Camptodactyly, Paten... OMIM:616737
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Hepatitis ORPHA:363523
Inverted Duplicated Chromosome 15 Syndrome
Talipes equinovarus, Short philtrum, Joint hypermobility, Drooling, 2-3 toe syndactyly, Unilatera... ORPHA:3306
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Familial Expansile Osteolysis
Osteolysis, Hydroxyprolinuria, Bowing of the long bones, Fragile teeth, Pathologic fracture, Thin... OMIM:174810
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Abnormality of epiphysis morphology, Neutropenia,... ORPHA:2643
Granulomatosis With Polyangiitis
Pleuritis, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Diff... OMIM:608710
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia, Tracheal stenosis, H... OMIM:217980
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate, Renal agenesis, Microgn... OMIM:601076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly, Cardiomegaly OMIM:613576
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Long philtrum, Thin vermilion border, Dislocated radial head, Joint hypermobility, ... OMIM:614856
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Thrombocytopenia, Metaphyseal dysplasia, Hep... OMIM:614727
Xfe Progeroid Syndrome
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia, Renal insufficiency, Proteinuria OMIM:610965
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Cleft palate OMIM:601355
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Taurodontia, Short sternum, Smooth philtrum, Large hand... OMIM:157980
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism, Cataract, Elevated circulating follicle stimulating... OMIM:240950
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Truncal obesity, Short toe, Microdontia, Micrognathia,... ORPHA:633
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Dysostosis, Stanescu Type
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Massively thickened long bone cor... ORPHA:1798
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening ORPHA:139474
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Shagreen patch, Hypodontia, Hypoplasia of penis, Hypospadias, Nephroli... ORPHA:1816
Dysosteosclerosis
Oligodontia, Natal tooth, Increased susceptibility to fractures, High palate, Micrognathia, Scler... OMIM:224300
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Abnormality of the phil... ORPHA:2863
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Mandibular prognathia, Sandal gap, High palate, Brachydactyly, Malar flattening OMIM:600991
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Glossitis, Megaloblastic anemia, Unilateral renal agenesis, Neutropenia, Stomatitis, M... ORPHA:79284
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Hepatomegaly, Microg... OMIM:253250
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Craniosynostosis, Downturned corners of mouth, Upper limb p... ORPHA:1299
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Everted lower lip vermilion, Truncal obesity... ORPHA:181393
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal tracheobronchial morphology, Microphallus, Micropenis OMIM:218450
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Renal phosphate wasting, Craniosynostosis, Abnormality of renal excret... ORPHA:289176
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, Rickets, Generalized... ORPHA:289157
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Low urinary cyclic ... OMIM:612462
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Craniofacial hyperostosis, Joint hyperflexibility, ... ORPHA:2484
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxity, Clinodac... OMIM:170390
Williams-Beuren Region Duplication Syndrome
Short philtrum, Diastema, Patent ductus arteriosus, Chronic otitis media, Unilateral renal agenes... OMIM:609757
Dental Ankylosis
Clinodactyly of the 5th finger, Mandibular prognathia, Abnormal dental enamel morphology, Tooth a... ORPHA:1077
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia OMIM:616029
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short finger, Short... OMIM:103580
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Aniridia, Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, ... OMIM:194072
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... ORPHA:2025
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... OMIM:228560
Osteogenesis Imperfecta
Joint hypermobility, Carious teeth, Abnormal dental enamel morphology, Abnormality of long bone m... ORPHA:666
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Branchial cyst, Unilateral renal agenesis, Abnormalit... ORPHA:2260
Diastrophic Dwarfism
Hip dysplasia, Camptodactyly of finger, Abnormality of epiphysis morphology, Joint hyperflexibili... ORPHA:628
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Short philtrum, Osteolysis, Camptodactyly of finger, Acne, Mandibular ... ORPHA:137834
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr... OMIM:618761
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth ORPHA:2026
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Flat acetabular roof, Delayed tarsal ossification, Long thumb, Dela... OMIM:600002
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Persistence of primary teeth, Glomerulopathy, Anemia, Renal insufficiency... ORPHA:375
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... ORPHA:3270
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Obtuse angle of mandible, Abnormal diaphysis morpholo... ORPHA:85184
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis OMIM:610156
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars... OMIM:612350
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... ORPHA:163649
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Joint hypermobility, Congenital hip dislocation, Hypo... OMIM:617052
Short Stature, Microcephaly, And Endocrine Dysfunction
Tooth malposition, Renal hypoplasia, Lymphopenia, Unilateral renal agenesis, Limb undergrowth, Tr... OMIM:616541
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate OMIM:217150
Gorham-Stout Disease
Mandibular pain, Osteolysis, Abnormality of finger, Abnormal bone ossification, Patchy reduction ... ORPHA:73
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Weismann-Netter Syndrome
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... OMIM:112350
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypophosphatasia, Childhood
Carious teeth, Craniosynostosis, Elevated urine pyrophosphate, Premature loss of primary teeth, P... OMIM:241510
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, 4-5 finger syndactyly, Neurogenic bladder, ... OMIM:164200
Osteoglosphonic Dysplasia
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in infancy, Tooth age... ORPHA:2645
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Patent ductus arteriosus, Unilateral renal agenesis, Vertebral fusion, ... OMIM:618845
Diastrophic Dysplasia
Costal cartilage calcification, Laryngotracheal stenosis, Hip contracture OMIM:222600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Carious teeth, Craniosynostosis, Phalangeal dislocation, Slender long bones ... ORPHA:536467
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Premature loss of permanent teeth, Recurrent fractures... OMIM:146300
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Split hand, Oral cleft, Xerostomia, Vesicourete... ORPHA:1896
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Mandibular prog... OMIM:259775
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Oculodentodigital Dysplasia
Neurogenic bladder, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Hype... ORPHA:2710
Nance-Horan Syndrome
Mulberry molar, Short phalanx of finger, Diastema, Screwdriver-shaped incisors, Supernumerary max... OMIM:302350
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Thyroiditis, Increased susceptibility to fractures, Anemia, Gingivitis, Osteoporos... ORPHA:79259
Epidermolysis Bullosa, Junctional, Non-Herlitz Type
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia OMIM:226650
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Micrognathia, Unilateral renal agenesis, Downturned corners of mouth ORPHA:1064
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Mitten deformity, Atypical sc... ORPHA:251393
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Pycnodysostosis
Delayed eruption of teeth, Short toe, Osteolysis, Narrow palate, Abnormality of dental morphology... ORPHA:763
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal calcification, Hydronephrosis, Tracheal stenosis OMIM:302960
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Hypoplastic frontal sinuses, Omp... ORPHA:90652
Clark-Baraitser syndrome
Genu valgum, Joint laxity, Short palm, Maxillary lateral incisor microdontia, Exaggerated median ... OMIM:300602
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac wing, Increased bone miner... ORPHA:2780
Nathalie Syndrome
Cataract ORPHA:2663
Oculocerebrodental Syndrome
Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Metaphyseal dysplasia, Clinodactyly... ORPHA:557003
Xanthoma Disseminatum
Abnormality of the larynx, Abnormality of the pharynx, Abnormal bronchus morphology ORPHA:158003
7Q11.23 Microduplication Syndrome
Joint hypermobility, Thin vermilion border, Craniosynostosis, Patent ductus arteriosus, Congenita... ORPHA:96121
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Shor... OMIM:263540
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Laryngeal stenosis, Abnormal bronchus morphology ORPHA:93352
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Absent radius, Triphalangeal thumb, Micrognathia, Hallux valgus, Limite... OMIM:154400
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Clinodactyly of the 3rd finger, Chronic oral candidiasis, Clinodactyly of the 4th finger, Decreas... ORPHA:221139
Seckel Syndrome 1
Enamel hypoplasia, Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, De... OMIM:210600
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness OMIM:261560
12Q14 Microdeletion Syndrome
Thin vermilion border, Horseshoe kidney, Downturned corners of mouth, Renal hypoplasia, Hypodonti... ORPHA:94063
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Recurrent otitis media, Oral cle... ORPHA:199306
Oculocerebrorenal Syndrome Of Lowe
Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Hematuria, Open mouth... ORPHA:534
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth ORPHA:3196
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia OMIM:615905
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbo... OMIM:210720
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Cleft upper lip, Cleft palate OMIM:244200
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Short nose, Laryngeal calcification, Tracheal stenosis, Pulmonary artery ... ORPHA:79345
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Underdeveloped nasal alae, Wide nasal bridge, Laryngomalacia, Tracheal stenosis, Recurrent respir... ORPHA:2637
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Hyperphosphaturia, Hypophosphatemic rickets, Gen... OMIM:613312
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Cleidocranial Dysplasia
Enamel hypoplasia, Narrow palate, Hypoplastic frontal sinuses, Increased bone mineral density, In... OMIM:119600
Sjogren-Larsson Syndrome
Enamel hypoplasia OMIM:270200
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Sa... OMIM:617475
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Joint laxity, Patent ductus arteriosus, Recurrent urinary tract infections, Sh... OMIM:619293
Schnitzler Syndrome
Skin rash, Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Arth... ORPHA:37748
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Trichomegaly
Cataract OMIM:190330
Grant Syndrome
Open bite, Abnormality of the glenoid fossa, Joint hyperflexibility, Abnormal palate morphology, ... ORPHA:2097
Cerebellar-Facial-Dental Syndrome
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone... ORPHA:444072
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Coffin-Siris Syndrome 10
Clinodactyly, Wide mouth, Persistence of primary teeth OMIM:618506
Hydrolethalus
Tracheal atresia, Laryngomalacia ORPHA:2189
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth OMIM:183300
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Ureteral agenesis, Stillbirth OMIM:274210
Brachydactyly, Type B1
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... OMIM:113000
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxial hand poly... ORPHA:2919
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Atkin-Flaitz Syndrome
Genu valgum, Joint laxity, Short palm, Maxillary lateral incisor microdontia, Exaggerated median ... OMIM:300431
Frontometaphyseal Dysplasia 1
Hydroureter, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High p... OMIM:305620
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Enamel hypoplasia, Folliculitis, Carious teeth, Scarring alopecia of scalp, Conjunctivitis, Kerat... OMIM:612843
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... OMIM:273050
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Enlarged kidney, Polydactyly, Micropenis, Natal tooth, Prea... OMIM:612651
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Broad long bones... OMIM:269300
Primary Hyperoxaluria
Nephrocalcinosis, Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent... ORPHA:416
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of limb bone morphology, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, ... OMIM:118100
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Osteopetrosis, Distal renal tubular acidosis, Cranial hyperostosis,... OMIM:259730
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Abnorm... ORPHA:2107
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Extramedullary hematopoiesis, Natal toot... ORPHA:313855
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Long philtrum, Flexion cont... ORPHA:487796
Lenz-Majewski Hyperostotic Dwarfism
Abnormal dental enamel morphology, Mandibular prognathia, Abnormality of the metacarpal bones, In... ORPHA:2658
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphysis,... OMIM:266920
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Patent ductus arteriosus, Neutropenia, Acetabular dysplasia, Anemia, Leukopeni... OMIM:617303
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger... OMIM:614188
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Conical tooth, Cutaneous finger syndactyly, 2-3 toe cutaneous syndactyly, Wide... OMIM:613573
Gaucher Disease Type 1
Osteolysis, Hematuria, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Hepatomega... ORPHA:77259
Cleidocranial Dysplasia
Open bite, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... ORPHA:1452
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Broad hallux, Syndactyly, Retrognathia, Increased over... OMIM:613684
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Failure to thrive OMIM:616353
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Micrognathia, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytop... OMIM:259720
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Rothmund-Thomson Syndrome
Skin rash, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Neutropenia, Sm... ORPHA:2909
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Taurodontia, Large hands, Abnormality... ORPHA:3220
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short foot,... OMIM:264475
Potocki-Shaffer Syndrome
Short philtrum, Downturned corners of mouth, Nephroblastoma, Decreased skull ossification, Anemia... ORPHA:52022
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Dyskeratosis Congenita
Oral leukoplakia, Osteoporosis, Carious teeth, Taurodontia, Abnormality of neutrophils, Periodont... ORPHA:1775
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinuria, Bowing of the long bones, Recurrent fra... OMIM:239000
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Anodontia OMIM:275450
Trichorhinophalangeal Syndrome, Type I
Coxa magna, Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Short metatar... OMIM:190350
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Thin vermilion border, Lipoatrophy, Slender long bone, Osteopenia, Mic... OMIM:601812
Cockayne Syndrome Type 2
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... ORPHA:90322
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Camptodactyly of finger, 4-5 finger syndactyly, Craniosynostosis, 2-5 finger syndactyly, Narrow m... ORPHA:468631
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... OMIM:313500
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Skin rash, Craniosynostosis, Cellulitis, Joint hyperflexibility, Chron... ORPHA:2314
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva, Eosinophilia ORPHA:517
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Autoimmune hemolytic anemia, Omphalocele, Hypoplasia of t... OMIM:243150
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Adducted thumb, Hernia, Talipes equinovarus, Hip dislocation, Osteopenia OMIM:616603
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Joint hypermobility, Oligodontia, Dental crowding, Pierre-Robin sequence, Thic... OMIM:619184
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth, Short fifth metatarsal, Short 3rd metacarpal, Short... ORPHA:79444
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Deep philtrum, Micrognathia, Increased bone mineral density ORPHA:1237
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Enamel hypoplasia, Osteoporosis, Thrombocytosis, Rickets, Thyroiditis, St... OMIM:212750
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
H Syndrome
Abnormality of the kidney, Osteolysis, Bronchiectasis, Microcytic anemia, Enlarged kidney, Campto... ORPHA:168569
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Diaphanospondylodysostosis
Nephroblastomatosis, Enlarged kidney, Nephrogenic rest, Cystic renal dysplasia, Hammertoe, Absent... OMIM:608022
Acrofacial Dysostosis, Weyers Type
Overlapping fingers, Postaxial hand polydactyly, Abnormality of the dentition, Hypodontia, Solita... ORPHA:952
Isolated Agammaglobulinemia
Skin rash, Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thr... ORPHA:229717
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Ectrodactyly, Selective tooth... ORPHA:1897
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Postaxial hand polydactyly, Erythroderma, Unilateral renal agenesis, Umbilical hernia, Multicysti... OMIM:308205
Nail-Patella Syndrome
Enamel hypoplasia, Abnormality of tibia morphology, Hematuria, Iliac horns, Abnormal digit morpho... ORPHA:2614
X-Linked Non-Syndromic Intellectual Disability
Shortening of all distal phalanges of the fingers, Long philtrum, Delayed eruption of teeth, Clin... ORPHA:777
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Coach Syndrome 1
Nephronophthisis, Postaxial hand polydactyly, Unilateral renal agenesis, Wide mouth, Hepatomegaly... OMIM:216360
Smith-Lemli-Opitz Syndrome
Hip subluxation, Epiphyseal stippling, Dental crowding, Patent ductus arteriosus, Metatarsus addu... OMIM:270400
Kallmann Syndrome With Spastic Paraplegia
High palate, Micropenis, Eunuchoid habitus, Unilateral renal agenesis OMIM:308750
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Mandibular prognathia, Recurrent urinary tract infections, Ureteral at... OMIM:614527
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s... OMIM:601957
Craniofacioskeletal Syndrome
Hypoplastic frontal sinuses, Choanal atresia, Hydronephrosis, Tracheal stenosis, Hypospadias OMIM:300712
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Renal insufficiency, Pierre-Robin sequence, Rhizomelia, Camptodactyly, Osteo... OMIM:611209
Hypophosphatasia
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Abnormality of the dentition, Fa... ORPHA:436
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Re... ORPHA:171839
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Short philtrum, Taurodontia, High, narrow palate, Macrodontia ORPHA:3214
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Carious teeth, Mitten deformity, Atrophic scars, Abnormality of th... ORPHA:79409
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Renal agenesis, Central Y-shaped metacarpal, Tongue no... OMIM:277170
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Club-shaped distal femur, Patchy sclerosis of finger phalanx, Metaphyseal ... OMIM:218400
Desmosterolosis
Renal agenesis, Narrow mouth, Micromelia, Patent ductus arteriosus, Osteopetrosis, Increased bone... ORPHA:35107
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Osteolysis, Abnormality of epiphysis morphology, ... ORPHA:324964
Geleophysic Dysplasia 1
Camptodactyly of finger, Short nose, Wrist flexion contracture, Joint contracture of the hand, Tr... OMIM:231050
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Unilateral renal agenesis OMIM:256690
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Retrognathia, Fused cervical vertebrae, Submucous clef... OMIM:619227
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Genu valgum, Macroglossia, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,... OMIM:619194
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding OMIM:600907
Meier-Gorlin Syndrome 8
Narrow mouth, Renal hypoplasia, Thick vermilion border, Decreased body weight, Micrognathia OMIM:617564
Immunodeficiency 33
Conical tooth, Delayed eruption of teeth, Hypodontia OMIM:300636
Spinocerebellar Ataxia, Autosomal Recessive 20
Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equinovarus, Dental crowding, Cam... OMIM:616354
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted lower lip vermilion, Short distal phalanx of finger, Microdont... ORPHA:181
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Gingivitis, Osteopenia, Premature loss o... OMIM:618107
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Scarring alopecia of scalp, Persistence of pr... OMIM:618727
Aarskog-Scott Syndrome
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Finger syndactyly, Joint hyper... ORPHA:915
Proteus Syndrome
Open mouth, Multiple lipomas, Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Facial hyp... OMIM:176920
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Narrow mouth, Mitten deformity, Atrophic scars, Flexion contracture, Corneal s... OMIM:226600
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Increased bone mineral de... ORPHA:93284
Blomstrand Lethal Chondrodysplasia
Long philtrum, Abnormality of epiphysis morphology, Synostosis of joints, Rhizomelia, Natal tooth... ORPHA:50945
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Clinodactyly of the 5th finger... ORPHA:73272
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Postaxial polydactyly, Short digit, Micropenis, Femoral bowing, Enlarged kid... OMIM:613091
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,...