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Gene: Sostdc1 MGI:1913292

Gene Summary

Name:

sclerostin domain containing 1

Synonyms:

ectodin, Sostl, Wise, USAG-1

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Sostdc1^{tm1.1(KOMP)Vlcg}	HOM		Early adult	0.00
persistence of hyaloid vascular system		Sostdc1^{tm1.1(KOMP)Vlcg}	HOM		Early adult	1.76×10^-05

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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	Section images	heterozygote	50% (1 of 2)
Brown adipose tissue	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	50% (1 of 2)
Harderian gland	Section images	heterozygote	50% (1 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Lung	Section images	heterozygote	50% (1 of 2)
Midbrain	Section images	heterozygote	100% (2 of 2)
Pancreas	Section images	heterozygote	100% (2 of 2)
Parotid gland	Section images	heterozygote	50% (1 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Quadriceps	Section images	heterozygote	50% (1 of 2)
Sciatic nerve	Section images	heterozygote	100% (2 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Sublingual gland	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	0.0% (0 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Vagina	Section images	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	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	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
Jejunum	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	Not available
Mammary gland	N/A	heterozygote	Not available
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 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
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vas deferens	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	Not available
Vesicular gland	N/A	heterozygote	0.0% (0 of 2)
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

77 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images

Human diseases caused by Sostdc1 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 Sostdc1 (0 diseases)
Human diseases predicted to be associated with Sostdc1 (707 diseases)

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

The table below shows human diseases predicted to be associated to Sostdc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Taurodontism	Taurodontia	OMIM:272700
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Anodontia Of Permanent Dentition	Anodontia	OMIM:206780
Tooth Agenesis, Selective, 1	Hypodontia	OMIM:106600
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Macrocephaly, Benign Familial	Frontal bossing, Dolichocephaly, Biparietal narrowing, Macrocephaly, Long philtrum	OMIM:153470
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Isotretinoin Syndrome	Biparietal narrowing, Cleft palate, Micrognathia	ORPHA:2305
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Craniosynostosis 1	Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Teeth Present At Birth	Natal tooth	OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Tetraploidy	Micrognathia, Microcephaly, Cleft palate, Short philtrum, Biparietal narrowing	ORPHA:3305
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Dental malocclusion, ...	ORPHA:3079
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Micrognathia, Narrow palate, Abnormal calvaria morphology, Biparietal narrowing, Narrow mouth	ORPHA:1323
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
15Q14 Microdeletion Syndrome	Microcephaly, Abnormality of the dentition, Cleft palate, Short philtrum, Biparietal narrowing, L...	ORPHA:261190
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenu...	ORPHA:2919
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Fetal Alcohol Syndrome	Thin upper lip vermilion, Micrognathia, Microcephaly, Non-midline cleft lip, Cleft palate, Bipari...	ORPHA:1915
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
1Q44 Microdeletion Syndrome	Frontal bossing, Exaggerated cupid's bow, Intestinal malrotation, Micrognathia, Microcephaly, Thi...	ORPHA:238769
Brachycephaly, Trichomegaly, And Developmental Delay	Flat occiput, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ver...	OMIM:617412
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Ret...	ORPHA:2521
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
3Q29 Microduplication Syndrome	Craniosynostosis, Microcephaly, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopi...	ORPHA:251038
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Toluene Embryopathy	Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal n...	ORPHA:1920
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Biparietal narrowing, Long ...	ORPHA:228396
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Chromosome 22Q11.2 Duplication Syndrome	High palate, Velopharyngeal insufficiency, Micrognathia, Microcephaly	OMIM:608363
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Macrocephaly/Autism Syndrome	Frontal bossing, High palate, Biparietal narrowing, Long philtrum, Postnatal macrocephaly, Midfac...	OMIM:605309
Osteoporosis	Osteoporosis	OMIM:166710
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Biparietal narrowing, Cleft palate	ORPHA:1770
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Rubinstein-Taybi Syndrome 2	Intestinal malrotation, Micrognathia, Microcephaly, Carious teeth, Talon cusp, Dental malocclusio...	OMIM:613684
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Lig4 Syndrome	Malabsorption, Micrognathia, Microcephaly, Brachycephaly, Thin vermilion border, Biparietal narro...	ORPHA:99812
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Uvula, Bifid	Bifid uvula	OMIM:192100
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
16Q24.3 Microdeletion Syndrome	Frontal bossing, Micrognathia, Wide mouth, Thick vermilion border, High palate, Biparietal narrow...	ORPHA:261250
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Mucolipidosis Type Iv	Microdontia, Everted lower lip vermilion, Biparietal narrowing, Microcephaly	ORPHA:578
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Enamel hypoplasia, Hypodontia, Oral mucosal blisters	OMIM:226650
Clark-Baraitser syndrome	Frontal bossing, Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median pa...	OMIM:300602
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularization	ORPHA:1952
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Cleidocranial Dysplasia	Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Sinusitis, Abnormal dental ena...	ORPHA:1452
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Adducted Thumbs Syndrome	Craniosynostosis, Microcephaly, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, ...	OMIM:201550
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Recurrent urinary tract infections, Abnormality of the dentition, Super...	ORPHA:502
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum	OMIM:190351
X-Linked Intellectual Disability, Cabezas Type	Microcephaly, Open bite, Thick lower lip vermilion, Wide mouth, High palate, Biparietal narrowing...	ORPHA:85293
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Micrognathia, High, narrow palate, Broad philtrum, Short philtrum, To...	ORPHA:166108
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Intellectual Developmental Disorder, Autosomal Dominant 21	Microcephaly, Cleft palate, Thin vermilion border, Narrow mouth, Incisor macrodontia, Long philtrum	OMIM:615502
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Microcephaly, Brachycephaly, Wide mouth, Biparietal narrowing, Long philtrum, Ma...	ORPHA:1292
Zimmermann-Laband Syndrome	Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc...	ORPHA:3473
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Supernumerary tooth, Patent ductus arteriosus, ...	ORPHA:86818
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macrocephaly, ...	ORPHA:1193
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Orofaciodigital Syndrome Type 6	Frontal bossing, Hamartoma of tongue, Micrognathia, Cleft palate, Midline notch of upper alveolar...	ORPHA:2754
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Peho Syndrome	Microcephaly, Gingival overgrowth, Abnormal upper lip morphology, Biparietal narrowing, Malar fla...	ORPHA:2836
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Biparietal narrowing	ORPHA:2031
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, Microcephaly, Supernumerary tooth, High,...	ORPHA:2980
8P23.1 Microdeletion Syndrome	Micrognathia, Microcephaly, Thin vermilion border, High palate, Biparietal narrowing	ORPHA:251071
Joubert Syndrome With Renal Defect	Orofacial cleft, Aganglionic megacolon, Biparietal narrowing, Cleft palate	ORPHA:220497
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Trichorhinophalangeal Syndrome Type 1	Frontal bossing, Micrognathia, Abnormality of the dentition, Supernumerary tooth, High palate, Lo...	ORPHA:77258
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Abnormal dental enamel morphology, Biparietal narrowing, Microcephaly	ORPHA:1005
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Lathosterolosis	Micrognathia, Microcephaly, Gingival overgrowth, Downturned corners of mouth, High palate, Bipari...	ORPHA:46059
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Joubert Syndrome With Ocular Defect	Orofacial cleft, Aganglionic megacolon, Biparietal narrowing, Cleft palate	ORPHA:220493
Duplication Of The Pituitary Gland	Microcephaly, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Brachytur...	ORPHA:314621
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, Taurodontia, High palate, Widely spaced teeth	OMIM:618205
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Macrocephaly, Microcephaly	OMIM:620062
Hallermann-Streiff Syndrome	Frontal bossing, Natal tooth, Selective tooth agenesis, Microcephaly, Micrognathia, High, narrow ...	OMIM:234100
Non-Distal Deletion 10Q	Biparietal narrowing	ORPHA:1581
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Monosomy 18Q	Mandibular prognathia, Microcephaly, Downturned corners of mouth, Wide mouth, High palate, Bipari...	ORPHA:1600
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Mosaic Trisomy 9	Intestinal malrotation, Micrognathia, Microcephaly, Cleft palate, Prominent occiput, High palate,...	ORPHA:99776
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Frontal bossing, Turricephaly, Flat occiput, Delayed eruption of teeth, De...	OMIM:614188
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Biparietal narrowing, Microcephaly	ORPHA:2518
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Filippi Syndrome	Microcephaly, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia	ORPHA:1816
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Frontal bossing, Smooth philtrum, Microcephaly, Micrognathia, Macroglossia...	ORPHA:261337
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Taurodontia	OMIM:614378
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Plagiocephaly, Microdontia	OMIM:605282
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Cardiofaciocutaneous Syndrome	Frontal bossing, Submucous cleft hard palate, High palate, Hypoplasia of the zygomatic bone, Bipa...	ORPHA:1340
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Joubert Syndrome	Aganglionic megacolon, Biparietal narrowing, Orofacial cleft	ORPHA:475
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Palate fistula, Midface...	OMIM:616788
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Aplasia Cutis Congenita	Abnormality of bone mineral density	ORPHA:1114
Cleidocranial Dysplasia 1	Frontal bossing, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, n...	OMIM:119600
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification	ORPHA:163649
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Orofaciodigital Syndrome I	Microretrognathia, Frontal bossing, Median cleft lip, Hamartoma of tongue, Microcephaly, Carious ...	OMIM:311200
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:3220
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anal stenosis, Thin upper lip vermilion, Hypopl...	OMIM:211380
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy...	ORPHA:93160
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Biparietal narrowing	ORPHA:2318
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Lowry-Maclean Syndrome	Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Delayed eruption of prim...	ORPHA:2409
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate...	ORPHA:2863
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Microcephal...	ORPHA:818
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
C Syndrome	Accessory oral frenulum, Micrognathia, Microcephaly, Gingival overgrowth, Cleft palate, Thin verm...	ORPHA:1308
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Brachycephaly, Narrow palate, Short upper lip, Short philtrum, Thick vermi...	ORPHA:364028
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Microcephaly, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Glo...	ORPHA:3201
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Hallermann-Streiff Syndrome	Frontal bossing, Natal tooth, Micrognathia, Microcephaly, High, narrow palate, Supernumerary toot...	ORPHA:2108
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets	OMIM:211600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Biparietal narrowing, Malabsorption	ORPHA:935
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Abnormality ...	ORPHA:438216
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis	OMIM:239000
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Exaggerated cupid's bow, Multicystic kidney dysp...	ORPHA:1507
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Osteopathia Striata-Cranial Sclerosis Syndrome	Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular...	ORPHA:2780
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Linear Nevus Sebaceus Syndrome	Prominent occiput, Frontal bossing, Plagiocephaly, Biparietal narrowing	ORPHA:2612
Intellectual Disability And Myopathy Syndrome	Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ...	OMIM:619719
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia	OMIM:614450
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Ectopic k...	ORPHA:2136
Joubert Syndrome With Hepatic Defect	Biparietal narrowing, Orofacial cleft, Macrocephaly	ORPHA:1454
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Abnormality of canine, Pierre-...	ORPHA:364577
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Chime Syndrome	Abnormal dental morphology, Abnormality of the kidney, Abnormality of the dentition, Supernumerar...	ORPHA:3474
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Micrognathia, Supernumerary to...	OMIM:268400
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Microcephaly, Short philtrum, Macro...	OMIM:216550
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Hypoplasia of penis, Median cleft lip and palate, Hypospadias, Microgn...	ORPHA:3107
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Schimke Immuno-Osseous Dysplasia	Microdontia, Abnormal primary molar morphology, Hypodontia	ORPHA:1830
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu...	OMIM:259720
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Oslam Syndrome	Carious teeth	ORPHA:2760
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Abnormality of the ...	ORPHA:800
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum...	ORPHA:137834
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Distal Deletion 12Q	Frontal bossing, Median cleft lip, Micrognathia, Microcephaly, High, narrow palate, Supernumerary...	ORPHA:96149
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi...	OMIM:257850
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo...	ORPHA:444072
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Microcephaly, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Marshall Syndrome	Thick upper lip vermilion, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower li...	OMIM:154780
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam...	ORPHA:1031
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth...	ORPHA:1133
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth	OMIM:619797
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Holoprosencephaly 9	Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Cleft upper lip, Agenesis ...	OMIM:610829
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia	OMIM:307800
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Microcephaly, Cleft lip, Super...	OMIM:615948
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets	OMIM:607765
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Microcephaly, Accessory oral frenulum, Supernumerary toot...	ORPHA:434179
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Anemia	OMIM:127000
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Pseudohypoparathyroidism Type 1B	Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis	ORPHA:94089
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent urinary tract infections, Dental crowding, Hypospadias, Carious teeth, Sup...	ORPHA:353281
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo...	OMIM:616354
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Micrognathia	ORPHA:2645
Schilbach-Rott Syndrome	Micrognathia, Microcephaly, Submucous cleft hard palate, Narrow mouth, Bifid uvula	OMIM:164220
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi...	OMIM:614607
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis	ORPHA:94063
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Desmosterolosis	Splenomegaly, Increased bone mineral density, Osteopetrosis	ORPHA:35107
Werner Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Coffin-Siris Syndrome 3	Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord...	OMIM:614608
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Polycyth...	ORPHA:2905
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Supernumerary tooth, Submuc...	OMIM:300166
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia	ORPHA:324964
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia	OMIM:612301
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Rectal prolapse, Gingival overgrowth, Narrow palate, Intestinal lympha...	OMIM:235510
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Unilateral cl...	OMIM:619122
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul...	OMIM:602080
Relapsing Polychondritis	Anteriorly placed anus, Recurrent aphthous stomatitis, Biparietal narrowing	ORPHA:728
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Holoprosencephaly 3	Proboscis, Microcephaly, Cleft lip, Cleft palate, Midface retrusion, Solitary median maxillary ce...	OMIM:142945
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Anemia	ORPHA:35687
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Patent ductus arteriosus, Supernumerary tooth, Horsesh...	OMIM:617088
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Recurrent urinary tract infections, Dental crowding, Hypospadias, Abnormality of the...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Recurrent urinary tract infections, Dental crowding, Hypospadias, Abnormality of the...	ORPHA:353277
Cystinosis	Rickets	ORPHA:213
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral renal agenesis, Su...	ORPHA:268261
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Familial Adenomatous Polyposis	Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo...	ORPHA:733
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi...	ORPHA:355
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth	OMIM:617105
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Rickets	ORPHA:79303
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab...	ORPHA:90652
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate, Micrognathia	ORPHA:166016
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum	OMIM:214150
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita	OMIM:602398
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo...	OMIM:619322
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa...	ORPHA:33364
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Micrognathia, Moderate albuminuria, Supernumerary tooth...	OMIM:619525
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Fanconi-Bickel Syndrome	Osteopenia, Rickets	ORPHA:2088
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation	OMIM:259775
Brachydactyly, Type B1	Delayed eruption of permanent teeth	OMIM:113000
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia...	ORPHA:90322
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Abnormality of the kidney, Unilateral renal agenesis...	ORPHA:508488
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis	OMIM:212750
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Mccune-Albright Syndrome	Pancytopenia, Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibr...	ORPHA:562
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth	OMIM:619769
Pseudohypoparathyroidism Type 1C	Ectopic ossification, Increased bone mineral density	ORPHA:79444
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia...	OMIM:610253
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Pseudohypoparathyroidism Type 1A	Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon...	ORPHA:79443
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, A...	OMIM:268305
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia	OMIM:617802
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Immunodeficiency 49	Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Doors Syndrome	Short lingual frenulum, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced te...	ORPHA:79500
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia	ORPHA:73272
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia	ORPHA:2484
Johanson-Blizzard Syndrome	Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2315
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,...	ORPHA:667
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Ectodermal Dysplasia And Immunodeficiency 1	Frontal bossing, Conical incisor	OMIM:300291
Sclerosteosis 1	Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc...	OMIM:269500
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo...	OMIM:269880
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Cleft palate, Gingivitis, Abnormality of the dentition	ORPHA:2314
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Microcephaly, Dolichocephaly, M...	OMIM:619841
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p...	ORPHA:96170
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ...	ORPHA:96092
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor...	ORPHA:2215
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Saethre-Chotzen Syndrome	Parietal foramina, Hypoplasia of the maxilla, Oxycephaly, Cleft of chin, Brachycephaly, Narrow pa...	OMIM:101400
Arboleda-Tham Syndrome	Microretrognathia, Frontal bossing, Mandibular prognathia, Thin upper lip vermilion, Intestinal m...	OMIM:616268
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth	ORPHA:2348
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Craniosynostosis, Microcephaly, Abnormality of the dentition, Cleft pal...	ORPHA:363611
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi...	ORPHA:79474
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ...	ORPHA:476126
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia	OMIM:300867
Rubinstein-Taybi Syndrome 1	Frontal bossing, Thin upper lip vermilion, Dental crowding, Microcephaly, Parietal foramina, Micr...	OMIM:180849
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, A...	ORPHA:2785
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Thick lower lip vermilion, Abnormality of the dentition	ORPHA:261652
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Orofacial cleft, Abnormality of the dentition	ORPHA:568
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane...	OMIM:277900
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o...	ORPHA:198
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ...	OMIM:613658
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate	ORPHA:158687
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate, Advanced erup...	OMIM:117550
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Genitopatellar Syndrome	Delayed eruption of teeth, Long philtrum, Micrognathia	ORPHA:85201
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Macroglossia, Thick lower lip vermilion, Widely spaced teeth	OMIM:309900
Bloom Syndrome	Malar flattening, Agenesis of maxillary lateral incisor, Dolichocephaly, Microcephaly	OMIM:210900
Peters-Plus Syndrome	Frontal bossing, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Craniosyn...	OMIM:261540
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Carpenter Syndrome 1	Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet...	OMIM:201000
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Arthritis, T ly...	OMIM:619381
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif...	OMIM:123790
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte...	ORPHA:69085
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ...	OMIM:247200
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr...	ORPHA:97360
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili...	OMIM:601812
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow...	OMIM:135500
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han...	OMIM:309000
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c...	OMIM:223370
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Lon...	ORPHA:77301
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa...	OMIM:300373
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M...	OMIM:301072
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221016
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets	ORPHA:2636
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion	ORPHA:1855
Holoprosencephaly 2	Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft hard palate, Bilateral cleft ...	OMIM:157170
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221008
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones, Splenop...	OMIM:269150
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum	OMIM:230740
Lead Poisoning	Delayed eruption of teeth	ORPHA:330015
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia	OMIM:259600
Incontinentia Pigmenti	Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth	OMIM:308300
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi...	OMIM:166250
Williams Syndrome	Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy...	ORPHA:904
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci...	ORPHA:464
De Barsy Syndrome	Delayed eruption of teeth, Small, conical teeth, High palate, Narrow mouth	ORPHA:2962
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth	ORPHA:508542
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ...	OMIM:122470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Micrognathia	ORPHA:280365
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:221900
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in...	OMIM:149730
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou...	OMIM:615873
Pitt-Hopkins Syndrome	Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth...	ORPHA:2896
Cystinosis, Nephropathic	Hypophosphatemic rickets, Splenomegaly, Rickets	OMIM:219800
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malposition	OMIM:309350
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia	OMIM:600373
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cleft palate, Wide mouth, Short ...	OMIM:280000
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat...	ORPHA:235
Opitz Gbbb Syndrome	Natal tooth, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Long philtrum, Ankyl...	ORPHA:2745
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate	OMIM:617925
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Median cleft lip and palate	OMIM:269860
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Macroglossia, Carious teeth	OMIM:253200
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Broad...	ORPHA:1465
Microphthalmia, Syndromic 1	Aganglionic megacolon, Dental crowding, Microcephaly, Cleft upper lip, High, narrow palate, Recta...	OMIM:309800
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate	OMIM:272460
Adnp Syndrome	Advanced eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum	ORPHA:404448
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer	ORPHA:811
Atelis Syndrome 2	Remnants of the hyaloid vascular system	OMIM:620185
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon...	OMIM:278250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodontitis	ORPHA:79259
Pierson Syndrome	Retinal detachment, Posterior lenticonus, Remnants of the hyaloid vascular system, Retinal hemorr...	OMIM:609049
Camurati-Engelmann Disease	Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth	ORPHA:1328
Branchiooculofacial Syndrome	Micrognathia, Microcephaly, Malrotation of colon, Pyloric stenosis, Cleft of chin, Cleft upper li...	OMIM:113620
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, High palate, Small, conical teeth, Smooth philtrum, Lon...	ORPHA:2834
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica...	ORPHA:51608
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg...	ORPHA:666
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sh...	ORPHA:798
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L...	OMIM:249000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia	OMIM:143095
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Micrognathia, Hypoplastic facial bones, Downturned corner...	OMIM:264090
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Conical tooth, Thick lower lip vermilion, Cl...	OMIM:135900
Floating-Harbor Syndrome	Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ...	ORPHA:2044
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ...	ORPHA:93357
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	OMIM:275210
Focal Dermal Hypoplasia	Delayed eruption of teeth, Cleft upper lip, Dental malocclusion, Cleft palate, Oligodontia, Hypod...	OMIM:305600
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Clef...	OMIM:619503
Restrictive Dermopathy	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	ORPHA:1662
Cornelia De Lange Syndrome	Delayed eruption of teeth, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilio...	ORPHA:199
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Mandibular prognathia, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:261537
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Frontal bossing, Delayed eruption of teeth, Aganglionic megacolon, Dental ...	ORPHA:261552
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,...	ORPHA:3455
Genitopatellar Syndrome	Delayed eruption of teeth, Micrognathia	OMIM:606170
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Microglossia, B...	ORPHA:672
Norrie Disease	Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy	ORPHA:649
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Al...	OMIM:601803
Sotos Syndrome	No permanent dentition, Delayed eruption of permanent teeth, Hypodontia, Abnormality of the denti...	ORPHA:821

Histopathology

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

There is no histopathology data for Sostdc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sostdc1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
SOSTDC1-producing follicular helper T cells promote regulatory follicular T cell differentiation.	Science (New York, N.Y.) (August 2020)	Sostdc1^{tm1(KOMP)Vlcg}	32820125
Shared and Unique Features Distinguishing Follicular T Helper and Regulatory Cells of Peripheral Lymph Node and Peyer's Patches.	Frontiers in immunology (April 2018)	Sostdc1^{tm1(KOMP)Vlcg}	PMC5900012

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sostdc1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sostdc1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sostdc1^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Sostdc1^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Sostdc1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Sostdc1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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