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Gene: Dmp1 MGI:94910

Gene Summary

Name:

dentin matrix protein 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased blood urea nitrogen level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.20×10^-06
decreased body length	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.03×10^-26
prolonged RR interval	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.07×10^-13
decreased heart rate	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	7.18×10^-12
enlarged kidney	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal bone structure	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.37×10^-15
increased lean body mass	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	1.25×10^-05
decreased bone mineral density	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	5.01×10^-18
decreased bone mineral content	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.69×10^-20
decreased grip strength	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	6.06×10^-19
decreased circulating phosphate level	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	9.45×10^-07
increased total body fat amount	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	2.96×10^-05
abnormal kidney morphology	Dmp1^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	50% (1 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	50% (1 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	50% (1 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	100% (2 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Ileum	N/A	heterozygote	50% (1 of 2)
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric adipose tissue	N/A	heterozygote	100% (2 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	50% (1 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Penis	N/A	heterozygote	50% (1 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Quadriceps	N/A	heterozygote	50% (1 of 2)
Sciatic nerve	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Skin	N/A	heterozygote	50% (1 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	50% (1 of 2)
Submandibular gland	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	50% (1 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Tongue	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	50% (1 of 2)
Trigeminal V nerve	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	50% (1 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	50% (1 of 2)
Vas deferens	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

88 Images

View images

Histopathology

Images

2 Images

View images

Human diseases caused by Dmp1 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 Dmp1 (2 diseases)
Human diseases predicted to be associated with Dmp1 (1568 diseases)

The table below shows human diseases associated to Dmp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypophosphatemic Rickets, Autosomal Recessive, 1		Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Autosomal Recessive Hypophosphatemic Rickets		Renal phosphate wasting, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Tooth ...	ORPHA:289176

The table below shows human diseases predicted to be associated to Dmp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis	OMIM:125440
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteoporosis, Short ...	ORPHA:71267
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Dentin Dysplasia, Type I	Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Anterior radial he...	OMIM:610967
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent...	ORPHA:83451
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth, Clinodactyly of the 5th finger	ORPHA:1094
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bon...	OMIM:619795
Trichodentoosseous Syndrome	Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth	OMIM:190320
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Osteopenia, Bowing of the arm, Joint hypermobility, Multiple prenatal ...	OMIM:301014
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Pfeiffer-Palm-Teller Syndrome	Joint stiffness, Enamel hypoplasia	ORPHA:2871
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del...	OMIM:613849
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density	ORPHA:1653
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific...	OMIM:259440
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300554
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Rachitic rosary, Increased circulating beta-C-te...	ORPHA:157215
Hall-Riggs Syndrome	Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Brachydactyly, Met...	OMIM:234250
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Carious teeth, Short femoral neck, Tooth agenesis, Small epiphyses, Micrognath...	OMIM:618363
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Fibular bowing, Elevated circulating al...	OMIM:241530
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Elevated ...	OMIM:307800
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed eruption of teeth, ...	ORPHA:166272
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtrum, Irregul...	OMIM:184260
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Hip dislocation, Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndact...	OMIM:203550
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F...	OMIM:300009
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating al...	OMIM:193100
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Right unicor...	OMIM:615314
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatarsal, Shor...	OMIM:612463
Junctional Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Dental Ankylosis	Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a...	ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m...	ORPHA:2501
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Elevated circulating alkaline phosphatase concen...	OMIM:264700
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Rec...	ORPHA:2643
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Delayed eruption of teeth, Short 1st metacarpa...	ORPHA:63442
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hyperphosphaturia, Elevated circulating alkaline phosphatase concentration...	ORPHA:89937
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Elevated circulating alkaline ...	ORPHA:289157
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Joint dislocation, Osteomalacia, Osteo...	ORPHA:93160
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Dent Disease	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Renal hypophosp...	ORPHA:1652
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
48,Xyyy Syndrome	Recurrent upper respiratory tract infections, Long philtrum, Thick lower lip vermilion, Dislocate...	ORPHA:99329
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Micrognathia, Bowing of lim...	OMIM:259420
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, Gl...	OMIM:613388
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Cranioectodermal Dysplasia	Abnormality of the dentition, Short distal phalanx of finger, Finger syndactyly, Abnormal diaphys...	ORPHA:1515
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi...	OMIM:134600
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
X-Linked Hypophosphatemia	Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, G...	ORPHA:89936
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Syndactyly	OMIM:613576
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cort...	ORPHA:210110
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long...	OMIM:619489
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg...	OMIM:112240
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R...	ORPHA:53697
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly, Joint hypermobility	OMIM:619692
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm...	OMIM:613982
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Thickened...	OMIM:253250
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Increased susceptibility to fractures, Joint hypermobility...	OMIM:610968
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Hypophosphatemic Bone Disease	Osteomalacia, Hypophosphatemia, Rickets, Bowing of the legs	OMIM:146350
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Fibular bowing, Elevated circulating alkaline phosphatase concen...	OMIM:277440
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Wide distal femoral metaphysis, Femor...	OMIM:614856
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentratio...	OMIM:179800
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Long fingers, High palate, Mandibular prognathia, Tapered finger	OMIM:618292
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion	OMIM:155050
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Malar flattening, Joint hypermobility, Amelogenesis imperfecta, Diaphyseal ...	OMIM:614727
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr...	OMIM:616294
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hypophosphatasia, Adult	Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu...	OMIM:146300
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Conical tooth, Delayed eruption of teeth, Disseminated nontuber...	OMIM:300636
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Hemifacial Atrophy, Progressive	Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Scarring alopecia of scalp, Carious teeth	OMIM:619787
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ...	OMIM:619718
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delayed eruption of ...	OMIM:612350
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Increased su...	OMIM:166220
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:226670
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bo...	OMIM:616507
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,...	ORPHA:2791
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-...	OMIM:613573
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi...	ORPHA:3019
Familial Isolated Hyperparathyroidism	Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, ...	ORPHA:99879
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Tooth ...	ORPHA:289176
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn...	ORPHA:251393
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Dental malocclusion, Recurrent respiratory infec...	ORPHA:61
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin, Congenital hip dislocation, Joint hypermobi...	OMIM:229200
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short toe, Short finger, Subcutaneous ossification, Enamel hypoplasia,...	OMIM:103580
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Short toe, Clinodactyly of th...	OMIM:619269
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joi...	OMIM:166200
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Recurren...	OMIM:610915
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of...	OMIM:602849
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup...	OMIM:112350
Progressive Familial Intrahepatic Cholestasis	Jaundice, Reduced bone mineral density, Splenomegaly, Hypocalcemia	ORPHA:172
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasi...	OMIM:212780
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Elevated circulati...	ORPHA:249
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe...	ORPHA:3145
Renal Tubular Acidosis Iii	Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithia...	OMIM:267200
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man...	ORPHA:2325
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia	OMIM:608931
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Osteomalacia, Hyperbilirubinemia, Elevate...	OMIM:227810
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Cleidocranial Dysplasia 2	Osteopenia, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, Aplastic clav...	OMIM:620099
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Dental malocclusion	OMIM:615541
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Qazi-Markouizos Syndrome	High, narrow palate, Recurrent infections, Open mouth, Broad philtrum, Hypoplasia of teeth, Delay...	ORPHA:3010
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Renal cyst, O...	OMIM:109130
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir...	OMIM:601957
Specific Granule Deficiency 2	Tooth malposition, Recurrent pneumonia, Conical tooth, Sepsis, Osteopenia, Sandal gap, Recurrent ...	OMIM:617475
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatarsal, Shor...	OMIM:612462
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Dental malocclusion, Malar flattening, Widely spaced teeth	OMIM:616108
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,...	OMIM:613823
Fanconi-Bickel Syndrome	Nephropathy, Osteopenia, Generalized aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hepati...	ORPHA:2088
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Long phil...	OMIM:190351
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Recurrent pneumonia, Osteopenia, Micrognathia, Genu valgum, Malar flat...	OMIM:613848
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re...	OMIM:179830
Taurodontism	Taurodontia	OMIM:272700
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Rachitic rosary, Rickets, Elevated circulating para...	OMIM:612089
Rubinstein-Taybi Syndrome 2	Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom...	OMIM:613684
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia, Onychomycosis	OMIM:614564
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Genu varum, Coxa valga	OMIM:613312
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Syndactyly, Osteolysis involving bones of the upper limbs, Brachydactyly, Camptodac...	ORPHA:88630
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase...	OMIM:618761
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed cranial suture closure, Hypocalcemic tetany, Hypocalcemia, Decreas...	ORPHA:93324
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Elevated circulating parathyroid ...	OMIM:618618
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Dental malocclusion, Limited elbow extension, Thin upper lip vermilio...	OMIM:619719
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Multiple small medullary renal cysts, Osteomal...	OMIM:600740
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Nephrocalcinosis, Pathologic fracture, Hyperphosphaturia, Hip co...	OMIM:156400
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creati...	OMIM:615605
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone density with cystic changes, Enamel hypoplasia, Cortica...	ORPHA:94089
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man...	OMIM:602483
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Renal insufficiency, Portal hypert...	ORPHA:213
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Elevated circulating alkaline phosphatase concentration, Clavicular scle...	OMIM:615198
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hy...	OMIM:611590
Oculoskeletodental Syndrome	Short 5th finger, Abnormality of the dentition, Retrognathia, Clinodactyly, Hypoplasia of the cap...	ORPHA:557003
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Decreased skull ossifi...	ORPHA:1452
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Oligodontia, Jo...	OMIM:619184
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Brachydactyly, Supernumerary tooth	ORPHA:1264
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 toe syndactyly, P...	OMIM:618727
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor...	ORPHA:1782
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Braddock-Carey Syndrome 1	Small hand, Clinodactyly, Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border,...	OMIM:619980
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental e...	ORPHA:10
Pycnodysostosis	Small hand, Carious teeth, Hypoplastic iliac wing, Micrognathia, Delayed eruption of primary teet...	ORPHA:763
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Recurrent pneumonia, Broad distal phalanx of finger, Broad phalan...	OMIM:614378
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Umbilical hernia, Inguinal hernia, Joint hypermobility, Taurodontia, Enamel ...	OMIM:618205
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long ha...	OMIM:615923
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Mcdonough Syndrome	Dental malocclusion, Open bite, Micrognathia, Abnormal palate morphology, Short philtrum, Mandibu...	ORPHA:2471
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met...	OMIM:190350
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Recurrent pneumonia, Dental malocclusion, Widely spaced teeth, Re...	OMIM:619293
Larsen-Like Syndrome	Dental malocclusion, Recurrent otitis media, Radial deviation of the 4th finger, Malar flattening...	OMIM:608545
Craniometadiaphyseal Dysplasia	Osteopenia, Wide anterior fontanel, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental ...	OMIM:269300
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hernia, Join...	ORPHA:137834
Seckel Syndrome 1	Ivory epiphyses, Dental malocclusion, Dental crowding, Selective tooth agenesis, Dislocated radia...	OMIM:210600
Tyrosinemia Type 1	Acute hepatic failure, Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly	ORPHA:882
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne...	OMIM:612287
Intellectual Disability, Buenos-Aires Type	Abnormal pelvic girdle bone morphology, Dental malocclusion, Umbilical hernia, Open bite, Abnorma...	ORPHA:3079
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Joint di...	ORPHA:53
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne...	OMIM:612286
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:612843
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Facial hyperostosis, Delayed eruption of permanent teeth, Patchy sclerosis of ...	OMIM:218400
Linear Verrucous Nevus Syndrome	Genu recurvatum, Toe syndactyly, Hypophosphatemia, Abnormality of the kidney, Reduced bone minera...	ORPHA:2611
Kenny-Caffey Syndrome, Type 1	Small hand, Carious teeth, Slender long bone, Decreased skull ossification, Calvarial osteosclero...	OMIM:244460
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol...	ORPHA:1133
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Hypophosphatasia, Childhood	Craniosynostosis, Carious teeth, Premature loss of primary teeth, Bowing of the legs	OMIM:241510
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas...	OMIM:136300
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Decre...	OMIM:614592
Scarf Syndrome	Long philtrum, Umbilical hernia, Inguinal hernia, Joint hypermobility, Short sternum, Enamel hypo...	ORPHA:3134
Osteoglosphonic Dysplasia	Tooth agenesis, Micrognathia, Inguinal hernia, Multiple unerupted teeth, Brachydactyly, Abnormal ...	ORPHA:2645
Pycnodysostosis	Aplastic clavicle, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of...	OMIM:265800
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth, Shagreen patch	ORPHA:1816
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Downturned corners of mouth,...	ORPHA:1327
Oncogenic Osteomalacia	Renal phosphate wasting, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mor...	ORPHA:352540
Hamamy Syndrome	Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Osteopenia, Inguinal hernia, ...	OMIM:611174
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Widely spaced teeth, Partial duplication of thumb phalanx, Enamel hyp...	OMIM:620193
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation	OMIM:211900
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Elevated circulating alkaline phosphatase concentration, ...	OMIM:174810
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Anodontia, Delayed eruption of prim...	ORPHA:90322
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Radioulnar synostosis, Carious teeth, Abnormal palate morphology	ORPHA:3270
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Achi...	OMIM:617258
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Osteopenia, Wide anterior fontanel, Long philtrum, Crumpled long bones...	OMIM:610682
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Elevated circulating alkaline phosphatase...	OMIM:248250
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyl...	OMIM:618506
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Abnormal limb...	ORPHA:2204
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Diastema, Micrognathia, Malar flattening, Brachydactyly	ORPHA:436245
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Recurrent urinary tract infections, Avascular necros...	ORPHA:502
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl...	OMIM:619736
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ...	ORPHA:2863
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Solitary median max...	ORPHA:952
Melnick-Needles Syndrome	Craniofacial hyperostosis, Tooth malposition, Short distal phalanx of finger, Delayed eruption of...	ORPHA:2484
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Flared metaphysis, Pathologic fracture...	OMIM:259700
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration	OMIM:607748
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ...	OMIM:122860
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Joint dislocation, Osteomalacia, Abnormal joint morphology, Avascular necros...	ORPHA:1901
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve...	OMIM:113000
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Short toe, Long philtrum, Sandal gap, Short 5th metacarpal, Thin upp...	OMIM:617877
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Everted upper lip vermilion, Delayed eruption of teeth, Microdont...	ORPHA:181
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Mucopolysaccharidosis Type 4	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal dental ename...	ORPHA:582
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Recurrent respiratory infectio...	ORPHA:329178
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Hall-Riggs Syndrome	Abnormal epiphysis morphology, Delayed eruption of teeth, Downturned corners of mouth, Abnormal d...	ORPHA:2107
Trisomy 4P	Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Radial club hand, Preaxial ...	ORPHA:1738
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Genu valgum, Hypophosphatemic rickets,...	OMIM:618913
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia, Short metacarpal	ORPHA:627
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, ...	ORPHA:3236
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim...	OMIM:259710
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Hypothyroidism, Congenital, Nongoitrous, 6	Macroglossia, Congenital hip dislocation, Delayed eruption of teeth, Omphalocele	OMIM:614450
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Hypomagnesiuria, Osteo...	ORPHA:405
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Splenomegaly, Intrahepatic cholestasis with episodic jaundice, Jaundice, Con...	OMIM:211600
Craniosynostosis 2	Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Triphalangeal thumb, Brachydactyl...	OMIM:604757
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr...	ORPHA:50814
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Delayed ...	ORPHA:93346
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Clinodactyly, Sl...	OMIM:612921
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
48,Xxxy Syndrome	Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Abnormal dental enamel m...	ORPHA:96263
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Hypercal...	OMIM:614732
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Toe syndactyly, Abnormal renal collecting system morphology, Hyperechogenic kidneys, ...	OMIM:616809
Laron Syndrome	Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Brachydactyly, O...	ORPHA:633
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Short toe, Short finger, San...	ORPHA:2980
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De...	OMIM:611497
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recurrent urinary tract infecti...	OMIM:613680
Temple-Baraitser Syndrome	Short distal phalanx of finger, Broad thumb, Everted upper lip vermilion, Delayed eruption of tee...	ORPHA:420561
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Unilateral cleft lip, Finger syndactyly, Micrognathia, Malar fla...	ORPHA:1787
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Eem Syndrome	Carious teeth, Finger syndactyly, Selective tooth agenesis, Widely spaced teeth, Ectrodactyly, Ab...	ORPHA:1897
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia	OMIM:601345
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermi...	OMIM:619797
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Recurrent pneumonia, Delayed eruption of teeth, Lon...	OMIM:214150
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Short distal phalanx of finger, Cone-shaped epiphysis, Long philtru...	ORPHA:77258
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:619752
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion...	OMIM:226600
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh...	ORPHA:18
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-s...	OMIM:302350
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical toot...	OMIM:129400
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Dental malocclusion, Deviation of fing...	OMIM:269500
Oculodentodigital Dysplasia	Hip dislocation, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-4 toe ...	OMIM:164200
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ...	ORPHA:2050
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth, Tapered finger	OMIM:618825
Potocki-Lupski Syndrome	Dental malocclusion, Dental crowding, Micrognathia, Wide mouth, Smooth philtrum, High palate, Man...	OMIM:610883
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Malar f...	OMIM:259775
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Joint stiffness	ORPHA:816
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Clinodactyly of the 5th finger, Dental malocclusion, Open mouth	OMIM:619149
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, H...	OMIM:617052
Van Buchem Disease	Thickened cortex of long bones, Elevated circulating alkaline phosphatase concentration, Increase...	OMIM:239100
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Bon...	ORPHA:2668
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Delayed eruption of teeth, Genu valgum, Short humer...	OMIM:600373
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism	OMIM:617343
49,Xxxxy Syndrome	Carious teeth, Abnormal epiphysis morphology, Delayed eruption of teeth, Abnormal dental enamel m...	ORPHA:96264
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Narrow...	ORPHA:2115
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, H...	ORPHA:36913
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Dental malocclusion, Cranial hyperostosis	OMIM:259730
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Proximal tubulopathy, Rickets, Polyuria, Osteoporosis	OMIM:560000
Self-Improving Dystrophic Epidermolysis Bullosa	Atrophic scars, Carious teeth, Oral mucosal blisters	ORPHA:79411
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Joint hypermobility, Smooth philt...	OMIM:249620
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat...	OMIM:300555
Odontomicronychial Dysplasia	Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los...	ORPHA:1811
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Umbilical hernia, Inguinal ...	OMIM:312830
Myopathy, Centronuclear, X-Linked	Dental malocclusion, Arachnodactyly, Slender toe, High palate, Flexion contracture	OMIM:310400
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Micrognathia, Malar flattening, Camptodactyly	OMIM:608257
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Narrow palate, Proxima...	OMIM:617883
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Narrow mouth, Open ...	OMIM:619356
Zimmermann-Laband Syndrome	Bifid uvula, Overtubulated long bones, Micrognathia, Wide mouth, Joint hypermobility, Gingival fi...	ORPHA:3473
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Abnormal per...	ORPHA:313855
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre...	OMIM:620366
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum, Irregular epiphyses, Small epiphyses, Genu valgum, Brac...	ORPHA:263463
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Postaxial polydactyly, Enamel hypoplasia, Hip dysplasia, Recurrent infections	OMIM:614576
Paget Disease Of Bone 4	Osteolysis, Elevated circulating alkaline phosphatase concentration	OMIM:606263
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Mandibular prognathia, Carious teeth, Recurrent upper respiratory tract i...	OMIM:253000
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the maxilla, Mi...	OMIM:612731
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