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Gene: Snx10 MGI:1919232

Gene Summary

Name:

sorting nexin 10

Synonyms:

2410004M09Rik

Order Alleles

IMPC Data Collections

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
abnormal eye morphology		Snx10^em1(IMPC)Mbp	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Histopathology

Images

2 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Snx10 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 Snx10 (2 diseases)
Human diseases predicted to be associated with Snx10 (994 diseases)

The table below shows human diseases associated to Snx10 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 8		Osteopetrosis, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Autosomal Recessive Malignant Osteopetrosis		Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Delayed erup...	ORPHA:667

The table below shows human diseases predicted to be associated to Snx10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Avascular necrosis, Multiple bony cystic lesions, Atrophy of alveolar ridges...	ORPHA:83451
Intermediate Osteopetrosis	Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality...	ORPHA:210110
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Avascular ne...	ORPHA:53
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Hypocalcemia, Bone cys...	ORPHA:93160
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An...	OMIM:259710
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali...	OMIM:600785
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology,...	OMIM:607634
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Hypocalce...	OMIM:264700
Osteochondrosis Of The Metatarsal Bone	Osteochondrosis, Avascular necrosis, Flattened metatarsal heads, Abnormality of the third metatar...	ORPHA:564003
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Enamel hypomineralization, Elevated circulating parathyroid hormone level, Hypophosphate...	OMIM:307800
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Vitamin D-Dependent Rickets, Type 2A	Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Hypocalce...	OMIM:277440
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Metaphyseal cuppin...	OMIM:619073
Gorham-Stout Disease	Osteopenia, Mandibular pain, Abnormal bone ossification, Abnormal ethmoid bone morphology, Abnorm...	ORPHA:73
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Hypocalce...	ORPHA:289157
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Abnormality of the dentition, Short stature, Hypophosphatemia,...	OMIM:193100
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema...	OMIM:146300
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Tooth agenesis, Multiple unerupted teeth, Delayed skeleta...	ORPHA:2645
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypopar...	ORPHA:93324
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Femoral bowing, Tibial bo...	OMIM:600081
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Increased bone min...	OMIM:259700
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:300554
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Retrognathia, Gastroesophageal reflux, Osteomalacia, Esophagitis, Osteoporos...	ORPHA:1901
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Delayed eruption of teeth, Ma...	OMIM:265900
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D...	OMIM:615198
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Hypocalcemia, Tooth abscess, Growth delay, Hypophosphatemia, Osteomalacia, Bowing of the...	ORPHA:89937
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ...	ORPHA:157215
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Postnatal growth retardation, Osteopetrosis, Increased bone mineral density, Cortic...	OMIM:620366
Infantile Systemic Hyalinosis	Osteopenia, Steatorrhea, Abnormality of the gastrointestinal tract, Abnormality of the adrenal gl...	ORPHA:2176
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Anemia, Bone pain, Arthritis, Skin rash, Hyperostosis, Abnormal s...	ORPHA:324964
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:241530
Hypophosphatemic Bone Disease	Rickets, Short stature, Hypophosphatemia, Osteomalacia, Bowing of the legs	OMIM:146350
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Fat malabsorption, Increased serum bile acid concentration	OMIM:607748
Short Stature, Dauber-Argente Type	Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio...	OMIM:619489
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Abn...	ORPHA:2501
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteolytic defects of the phalanges of the hand, Metatarsal fracture, Osteomyelitis	OMIM:615632
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Majeed Syndrome	Metaphyseal irregularity, Acne, Hypochromic microcytic anemia, Increased bone mineral density, Bo...	ORPHA:77297
Mueller-Weiss Syndrome	Fragmented, irregular epiphyses, Avascular necrosis, Knee osteoarthritis, Arthritis, Abnormality ...	ORPHA:566943
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Mccune-Albright Syndrome	Hepatocellular adenoma, Abnormal femur morphology, Bone marrow hypocellularity, Ovarian cyst, Hyp...	ORPHA:562
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Short st...	OMIM:300009
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Growth delay, Thrombocyto...	OMIM:611490
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Decreased body wei...	OMIM:617306
Trichodentoosseous Syndrome	Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia	OMIM:190320
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Mandibular p...	ORPHA:3416
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, Osteopetrosis, High, narrow palate, Delayed eruptio...	ORPHA:2780
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l...	ORPHA:94089
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density, Short stature	ORPHA:172
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth...	ORPHA:289176
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Abnormal femur morphology, Discoid lupu...	ORPHA:166119
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Narrow mouth, Sh...	OMIM:619322
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Short stature, Hypophosphate...	OMIM:613388
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Spondyloepiphyseal Dysplasia, Nishimura Type	Elevated circulating parathyroid hormone level, Disproportionate short-limb short stature, Cone-s...	OMIM:618618
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con...	OMIM:179800
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Bowing o...	OMIM:619795
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cholelithiasis, Diarrhea, Short stature, Conjugated hyperbilirubinemia, Fat ...	OMIM:211600
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Short stature	OMIM:179830
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Congenital hypoparathyroidism, Slender long bone, Hypocalcemia, Decreas...	OMIM:244460
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Celiac Disease, Susceptibility To, 1	Delayed puberty, Rickets, Steatorrhea, Postnatal growth retardation, Recurrent aphthous stomatiti...	OMIM:212750
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Long phi...	OMIM:166250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Thin vermilion border, Decreased response to growth hormone stimula...	OMIM:241410
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo...	ORPHA:53697
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Mycetoma	Bone cyst, Abnormal appendicular skeleton morphology, Abnormal bone structure, Recurrent bacteria...	ORPHA:2583
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Fused cervical vertebrae, Stomatitis, Skin rash, Pustule, Neutrophilia, ...	OMIM:612852
Sanjad-Sakati Syndrome	Postnatal growth retardation, Intestinal obstruction, Thin vermilion border, Hypoparathyroidism, ...	ORPHA:2323
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypokalemia, Vomiting, Growth delay	OMIM:602722
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Osteopenia, Delayed eruption of teeth, Skin rash, Increased circulating IgE...	ORPHA:2314
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Delayed eruption of teeth, Osteoporosis, Short stature, Dentinogenesis imperfecta...	ORPHA:71267
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Parathyroid hy...	OMIM:612089
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens...	OMIM:136300
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteolytic defects of the phalanges of the hand, Autoamputation of digits, Osteomyelitis	OMIM:613115
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent skin infections,...	OMIM:612840
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Broad jaw	ORPHA:178377
Tyrosinemia Type 1	Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Short stature, Hepatosplenomeg...	OMIM:259730
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D...	OMIM:620099
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Short stature, Growth delay, Splenomegaly, Intrauterine growth retardation	OMIM:618541
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Renal Tubular Acidosis Iii	Rickets, Osteomalacia, Hypokalemia	OMIM:267200
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Short stature, Limb undergrowt...	ORPHA:2204
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Steatorrhea, Diarrhea, Conjugated hyperbilirubinemia, Acholic stools, Hypocholesterolemi...	OMIM:607765
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Majeed Syndrome	Delayed puberty, Bone pain, Skin rash, Anemia of inadequate production, Growth delay, Delayed ske...	OMIM:609628
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia...	OMIM:618282
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Skin rash, Chronic neutropenia, Abnormal finger ...	ORPHA:811
Fanconi Renotubular Syndrome 1	Rickets, Hypokalemia, Short stature, Hypophosphatemia, Osteomalacia	OMIM:134600
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Postnatal growth retardation, Decreased response to growth hormone stimulation test, ...	OMIM:614732
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short stature, Ename...	OMIM:612463
Bile Acid Conjugation Defect 1	Rickets, Conjugated hyperbilirubinemia	OMIM:619232
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m...	ORPHA:1452
Fanconi Renotubular Syndrome 3	Rickets, Short stature, Growth delay, Elevated circulating creatinine concentration, Bowing of th...	OMIM:615605
Melorheostosis	Bone pain, Arthritis, Increased bone mineral density, Hyperostosis, Ectopic ossification in muscl...	ORPHA:2485
Desmosterolosis	Retrognathia, Osteopetrosis, Increased bone mineral density, Narrow mouth, Micromelia, Metatarsus...	ORPHA:35107
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Delayed skeletal maturation, Bifid uvula, Wide mouth, Symphalangism a...	ORPHA:2658
Cystinosis	Rickets, Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Hypothyroidism, Vomiting, ...	ORPHA:213
Sapho Syndrome	Steatorrhea, Bone pain, Arthritis, Skin rash, Hyperostosis, Abnormal sacroiliac joint morphology,...	ORPHA:793
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Increased inflam...	OMIM:209950
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis	ORPHA:2218
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Accelerated skeletal maturation, Micrognath...	ORPHA:1423
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Hip subluxation, Anemia, Hypochromic microcytic anemia, Panc...	OMIM:259720
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Postnatal growth retardation, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid ...	ORPHA:79303
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Metaphyseal widening, Erlenmeyer flask deformi...	OMIM:618476
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Delayed eruption ...	OMIM:103580
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypermagnesemia, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia, Oste...	OMIM:600740
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Delayed eruption of teeth, Hypodontia, Short middle phalanx of the 5th finger...	ORPHA:63442
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Anemia, Growth delay, Decreased circulating IgG level, Abnormal tr...	OMIM:612301
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Hypodontia, Dislocated rad...	OMIM:612350
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Arthritis, Skin rash, Glossoptosis, Sinusitis, Failure to thrive, S...	ORPHA:47
Occipital Horn Syndrome	Gastroparesis, Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Join...	ORPHA:198
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Elevated circulating creatine kinas...	ORPHA:1652
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Keratitis,...	ORPHA:453510
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Sh...	OMIM:617974
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph...	ORPHA:2769
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Diarrhea, Osteoporosis, Vomiting, Type I diabetes mellitus	OMIM:560000
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hypokalemia, Short stature	OMIM:611590
Neu-Laxova Syndrome	Rickets, Osteopenia, Retrognathia, Trismus, Abnormality of the philtrum, Everted lower lip vermil...	ORPHA:2671
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, High palate, Sinusitis, Failure to thrive, Conjunctiv...	ORPHA:33110
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Pachydermoperiostosis	Acne, Abnormal cortical bone morphology, Anemia, Avascular necrosis, Bone pain, Seborrheic dermat...	ORPHA:2796
Fanconi-Bickel Syndrome	Rickets, Hypertriglyceridemia, Osteopenia, Hepatocellular carcinoma, Bowing of the long bones, Gr...	ORPHA:2088
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Short...	OMIM:122860
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Severe sh...	OMIM:112350
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Cheilit...	ORPHA:534
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short 4th metacarpal, Decreased response to growth hormone stimulation test, Re...	ORPHA:79444
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Skin rash, Microdontia, Neutropenia, Hypoplasia of...	ORPHA:2909
Lowry-Maclean Syndrome	Intrauterine growth retardation, Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Decreased circulating total IgM, Neutropenia, Chronic mucocutaneous candidia...	OMIM:619752
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Abnormality of the dentition, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:615269
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Hypocalcemia, Chronic diarrhea, Hypoproteinemia, Osteoporo...	ORPHA:398063
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-...	ORPHA:174
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Clinodactyly of the 5th toe, Hypertriglyceridemia, Clinodactyly of the 5th ...	OMIM:618010
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Avascular necrosis, Short philtru...	ORPHA:137834
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Neonatal short-limb short stature, Proximal placeme...	ORPHA:628
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Autoimmune hypoparathyroidis...	ORPHA:36913
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti...	ORPHA:3238
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal circulating calcium-phosphate regulating hormone concentration, Aplasia/hypoplasia of th...	ORPHA:2636
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Wide anterior fontanel, Dental crowding, Mandibular p...	OMIM:269300
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Diarrhea, Osteoporosis, Growth delay, Exocrine pancreatic insufficiency, Os...	ORPHA:309031
Fanconi-Bickel Syndrome	Rickets, Postnatal growth retardation, Increased serum bile acid concentration, Hypokalemia, Hypo...	OMIM:227810
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Long philtrum, Postnatal growth retardation, Clinodactyly of the 5th finger, Gastroes...	ORPHA:576283
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Abnormal platelet function, Short metacarpal, Short 4th metacarpal,...	ORPHA:79443
Infantile Myofibromatosis	Abnormal metaphysis morphology, Intestinal obstruction, Neoplasm of the pancreas, Gingival fibrom...	ORPHA:2591
Dysosteosclerosis	Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b...	ORPHA:1782
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Monosomy 5P	Finger syndactyly, Abnormality of bone mineral density, High palate, Intrauterine growth retardat...	ORPHA:281
Pycnodysostosis	Narrow palate, Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteoly...	OMIM:265800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Postnatal growth retardation, Clinodactyly of the 5th finger, Delayed eruption of teeth, Severe p...	ORPHA:73272
Osteogenesis Imperfecta, Type Xiii	Long philtrum, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, ...	OMIM:614856
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Delayed erup...	ORPHA:667
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Reduced bone mineral density, Clinodactyly...	ORPHA:2370
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Decreased circulating total IgM, Sclerosing cholangitis, Increased circul...	OMIM:243700
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, Dental crowding, High palate, Abnormal digit mor...	OMIM:300831
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hypouricemia, Short stature, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Bronchiectasis, Autoimmune t...	OMIM:608184
Immunodeficiency 31C	Osteopenia, Chronic oral candidiasis, Autoimmune hemolytic anemia, Delayed puberty, Impaired lymp...	OMIM:614162
Familial Expansile Osteolysis	Fragile teeth, Premature loss of teeth, Bowing of the long bones, Osteolysis, Pathologic fracture...	OMIM:174810
Chondrodysplasia, Blomstrand Type	Flared metaphysis, Squared iliac bones, Micromelia, Accelerated skeletal maturation, Micrognathia...	OMIM:215045
Grant Syndrome	Abnormal palate morphology, Abnormal cortical bone morphology, Open bite, Decreased skull ossific...	ORPHA:2097
Dysosteosclerosis	Broad femoral neck, Absent paranasal sinuses, Clavicular sclerosis, Abnormal metaphyseal trabecul...	OMIM:224300
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Hypocalcemia, Decreased skull ossification, Ankyloglossia, ...	OMIM:602361
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Erdheim-Chester Disease	Abnormal metaphysis morphology, Xanthelasma, Anemia, Avascular necrosis, Increased bone mineral d...	ORPHA:35687
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Hypocalcemia, Tibial bowing, Abnormal pelv...	ORPHA:352540
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Failure to thrive, S...	OMIM:600121
Lowe Oculocerebrorenal Syndrome	Rickets, Bicarbonaturia, Postnatal growth retardation, Genu valgum, Pathologic fracture, Osteomal...	OMIM:309000
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism	OMIM:617343
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophos...	ORPHA:405
Pycnodysostosis	Disproportionate short-limb short stature, Hypoplastic iliac wing, Mesomelia, Joint hypermobility...	ORPHA:763
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Osteopetrosis, Thick lower lip vermilion, Anemia, Tooth malposition, Pancytopenia, ...	ORPHA:2785
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis, Delayed skeletal maturation, Short stat...	OMIM:616943
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Central diabetes insipidus, Decreased circulating osteocalcin level, Long philtrum	OMIM:125700
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Thin vermilion border, Second metatarsal posteriorly placed, Delayed eruption...	OMIM:214150
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ...	OMIM:190350
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia...	ORPHA:577
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature	OMIM:268315
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Accelerated skeletal maturation, Cone-shaped epiphys...	ORPHA:950
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Panniculitis, Conical tooth, Optic neuritis, B lymphocytopenia, ...	OMIM:301081
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone concentration, Ca...	ORPHA:93325
Chronic Recurrent Multifocal Osteomyelitis 3	Bone pain, Palmoplantar pustulosis, Osteomyelitis	OMIM:259680
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypoparathyroidism, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal ...	OMIM:156400
Schnitzler Syndrome	Anemia, Increased bone mineral density, Arthritis, Skin rash, Bone pain, Leukocytosis, Increased ...	ORPHA:37748
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal fibula morphology, Abnormal palate morphology, Abnormal femur morphology,...	ORPHA:2063
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal palate morphology, Reduced bone mineral density, Open bite, Congenital pyloric atresia, ...	ORPHA:2617
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdo...	ORPHA:221016
Aspergillosis	Abnormal long bone morphology, Increased circulating IgE level, Bronchiectasis, Sinusitis, Osteom...	ORPHA:1163
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Hypokalemia, Diarrhea, Vomiting, Constipation, Short statu...	ORPHA:18
Neuropathy, Hereditary Sensory, Type Id	Autoamputation of digits, Osteomyelitis	OMIM:613708
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor...	ORPHA:1798
Endove Syndrome, Limb-Brain Type	Aplasia of the 3rd finger, Talar aplasia, Failure to thrive, Triangular tibia, Joint hypermobilit...	OMIM:619218
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Gastroesophageal reflux, Hypocalcemia, Esophag...	OMIM:613658
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Abnormality of the medullary cavity of the long b...	OMIM:127000
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val...	OMIM:182250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Long philtrum, Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone ...	ORPHA:163649
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Short long bone, Tooth agenesis, Accelerated skeletal maturation, Joint hypermobility, Coxa valga...	OMIM:618363
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Gastroesophageal reflux, Hypokalemia, Hypocalcemia, High palate, Congenit...	OMIM:617913
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Delayed skeletal maturation, Genu...	ORPHA:221008
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Moderat...	OMIM:113300
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor...	ORPHA:2410
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Delayed puberty, Agenesis of molar, Bicoronal synostosis, Microd...	OMIM:619718
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, Elevated c...	OMIM:619381
Trichorhinophalangeal Syndrome Type 2	Long philtrum, Abnormal palate morphology, Supernumerary tooth, Genu valgum, Cone-shaped epiphyse...	ORPHA:502
Camurati-Engelmann Disease	Limb pain, Delayed puberty, Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral den...	OMIM:131300
Alpha-Heavy Chain Disease	Hypocalcemia, Abnormal small intestine morphology, Dysgammaglobulinemia, Growth delay	ORPHA:100025
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Postnatal growth retardation, Mandibular prognathia, 2-3 toe syndactyly, Delayed skel...	ORPHA:2324
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Cleft lip, Delayed puberty, Osteoporosis	OMIM:615271
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Dental crowding, 2-3 toe syndactyly, Eruption failure, High palat...	ORPHA:476126
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t...	ORPHA:420561
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Reduced bone mineral density, Decreased circulating total IgM, Join...	OMIM:620210
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Bone marr...	OMIM:231095
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Disproportionate short-limb short statu...	ORPHA:175
Hypophosphatasia	Abnormal metaphysis morphology, Bowing of the long bones, Abnormality of the dentition, Short sta...	ORPHA:436
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,...	ORPHA:49042
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Avascular necrosis, Increased mean corpuscular ...	ORPHA:232
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Fanconi-Like Syndrome	Osteomyelitis, Pancytopenia	OMIM:227850
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Genu valgum, Truncal obesity, Broad femoral head, Short...	OMIM:620639
Momo Syndrome	Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, Delayed eruptio...	ORPHA:2563
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration, Postnatal growth retardation	OMIM:615361
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Delayed puberty, Supernumerary tooth, Limitation of joint mobility, Short stature, Carious teeth,...	ORPHA:3145
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Short stature, Short femoral ...	OMIM:618392
Immunodeficiency 92	Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:619652
Familial Isolated Hyperparathyroidism	Osteopenia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Generali...	ORPHA:99879
Acrodysostosis 1 With Or Without Hormone Resistance	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi...	OMIM:101800
Aredyld Syndrome	Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu...	ORPHA:1133
Immunodeficiency 27B	Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Short finger, Dental malocclusion, Dela...	ORPHA:2980
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Oculoskeletodental Syndrome	Retrognathia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Microdontia, Short stature...	ORPHA:557003
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Abnormality of the dentition, Hypogonadotropic hypogonadism	OMIM:615266
Thymic Neuroendocrine Tumor	Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym...	ORPHA:97289
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi...	ORPHA:166272
Laron Syndrome	Delayed puberty, Truncal obesity, Delayed eruption of teeth, Microdontia, Tooth agenesis, Delayed...	ORPHA:633
Combined Oxidative Phosphorylation Deficiency 53	Hypochromic microcytic anemia, Arthritis, Short stature, Failure to thrive, Septic arthritis, Ost...	OMIM:619423
Paget Disease Of Bone 2, Early-Onset	Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing,...	OMIM:602080
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ...	OMIM:608747
Hypomagnesemia 3, Renal	Rickets, Amelogenesis imperfecta, Elevated circulating parathyroid hormone level, Genu valgum, Hy...	OMIM:248250
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial...	OMIM:218400
Ring Chromosome 10 Syndrome	Thin vermilion border, Aganglionic megacolon, Sandal gap, Hypocalcemia, Intrauterine growth retar...	ORPHA:1438
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Abnormal femora...	ORPHA:2619
Pitt-Hopkins Syndrome	Postnatal growth retardation, Abnormal palate morphology, Aganglionic megacolon, Finger clinodact...	ORPHA:2896
Wilson Disease	Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirub...	OMIM:277900
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Femoral bowing, Osteoporosis, Carious teeth, Severe short stature, Recurrent fractures	OMIM:126550
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypoplastic ischia, Coro...	ORPHA:313855
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Premature loss of teeth, Bowing of the long bones, Os...	OMIM:239000
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased...	OMIM:614592
Short Stature-Wormian Bones-Dextrocardia Syndrome	Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph...	ORPHA:2863
Infantile Nephropathic Cystinosis	Rickets, Abnormality of thyroid physiology, Hypokalemia, Vomiting, Constipation, Growth delay, Hy...	ORPHA:411629
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Cleft soft palate, Unicoronal synostosis, Bicoronal syn...	OMIM:604757
Gaucher Disease	Delayed puberty, Increased circulating antibody level, Joint stiffness, Delayed skeletal maturati...	ORPHA:355
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hypocalcemia, Oligodontia, Elbow flexion contracture, Cryptorchidism,...	OMIM:618440
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Abnormal circulating...	OMIM:615923
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldosteronism, Proportionate short sta...	ORPHA:171876
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper lip, High palat...	ORPHA:77258
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Thin upper lip vermilion, Short stature	ORPHA:2512
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Hyaline Fibromatosis Syndrome	Osteopenia, Gingival fibromatosis, Diarrhea, Gingival overgrowth, Osteoporosis, Flexion contractu...	OMIM:228600
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Calvarial osteosclerosis, Tooth malposition, Flared metaphysis, Dental crow...	OMIM:123000
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Short stature, Recurrent fractures, Increased susceptibility to fract...	OMIM:615066
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Short stature, Slender long bones with narrow diaphyses, Intrauterine growth retardat...	ORPHA:50811
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Finger syndactyly, ...	ORPHA:2136
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Hypodontia, High pal...	ORPHA:3473
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ...	OMIM:272460
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Dental crowding, Limitation of movement at ankles, Jo...	ORPHA:740
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Reduced bone mineral density	OMIM:620200
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Cranioectodermal Dysplasia 1	Radial deviation of finger, Everted lower lip vermilion, Microdontia, Short humerus, Short distal...	OMIM:218330
Hypophosphatasia, Infantile	Unossified vertebral bodies, Disproportionate short-limb short stature, Metaphyseal cupping, Elev...	OMIM:241500
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune ...	ORPHA:37042
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of...	OMIM:619269
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hypokalemia, Clubbing of fingers, Glossitis, Diarrhea, Hypocalcemia, ...	OMIM:175500
Coccidioidomycosis	Skin rash, Broad metatarsal, Granuloma, Pericarditis, Erythema nodosum, Osteolysis, Morbilliform ...	ORPHA:228123
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Foot osteomyelitis, Hammertoe	OMIM:600882
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Hypercalcemia, Hyperparathyroidism	ORPHA:2668
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis	OMIM:162400
Gapo Syndrome	Breast hypoplasia, High, narrow palate, Long philtrum, Thick lower lip vermilion, Wide anterior f...	OMIM:230740
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Osteomyelitis	OMIM:239840
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Menkes Disease	Abnormal metaphysis morphology, Abnormal palate morphology, Tarsal synostosis, Bowing of the long...	ORPHA:565
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati...	ORPHA:1525
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten...	OMIM:610967
Cystinosis, Nephropathic	Rickets, Delayed puberty, Hypophosphatemic rickets, Male hypogonadism, Genu valgum, Hypokalemia, ...	OMIM:219800
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Thick lower lip vermilion, Gastroes...	ORPHA:10
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Abnormality of the anus, Long philt...	OMIM:211380
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Wrist flexion contracture, Abnormally ossified vertebrae, E...	ORPHA:800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, Parathyroid...	OMIM:617994
Familial Isolated Hypoparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Dela...	ORPHA:2238
Bacterial Toxic-Shock Syndrome	Myocarditis, Increased circulating metamyelocyte count, Myositis, Arthritis, Skin rash, Increased...	ORPHA:36234
Trisomy 9P	Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Downturned c...	ORPHA:236
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Midgut malrotation, Talon cusp, Bilateral cryptorc...	ORPHA:2409
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Craniofacial oste...	ORPHA:1328
Familial Adenomatous Polyposis	Eruption failure, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tu...	ORPHA:733
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Microdontia, ...	OMIM:268400
Craniolenticulosutural Dysplasia	Osteopenia, Long philtrum, Gastroesophageal reflux, Delayed eruption of teeth, Wide anterior font...	OMIM:607812
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Clinodactyly of the 5th finger, Broad femor...	ORPHA:353298
Pseudohypoparathyroidism Type 2	Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa...	ORPHA:94090
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Steatorrhea, Skin rash, Calvarial hyperostosis, Anemia of inadequate production, Dela...	OMIM:612714
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Narrow palate, Thin vermilion border, Supernume...	OMIM:234100
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Thrombocytopenia, Deep philtrum	ORPHA:1237
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi...	ORPHA:2107
Fusariosis	Lung abscess, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusit...	ORPHA:228119
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Multiple prenatal fractures, Severe short stature, Dentinogenesis imperfe...	OMIM:301014
Neuropathy, Hereditary Sensory, Type Ie	Osteomyelitis	OMIM:614116
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Short stature, Diabetes mellitus, Hypercholesterolemia	OMIM:612526
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f...	ORPHA:2108
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Coxa valga, Genu varum, Com...	OMIM:201000
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Rhizomelia, Flared metaphysis, Increased bone mineral density,...	ORPHA:50945
Seizures-Scoliosis-Macrocephaly Syndrome	Reduced bone mineral density, Gastroesophageal reflux, Constipation, Nausea, Long philtrum, Overl...	ORPHA:466926
Hereditary Sensory And Autonomic Neuropathy Type 1	Pathologic fracture, Osteomyelitis, Limb pain	ORPHA:36386
Craniolenticulosutural Dysplasia	Long philtrum, Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High pa...	ORPHA:50814
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Open bite, High palate, Narrow mouth, Short stature, Campto...	ORPHA:1327
Gardner Syndrome	Supernumerary tooth, Neoplasm of the pancreas, Gastrointestinal carcinoma, Adrenocortical adenoma...	ORPHA:79665
Scedosporiosis	Sinusitis, Pericarditis, Arthralgia/arthritis, Septic arthritis, Pneumonia, Endocarditis, Osteomy...	ORPHA:449280
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Trip...	ORPHA:949
Catifa Syndrome	Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly, Cleft palate, Lo...	OMIM:618761
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Decreased circulating total IgM, Functional abnormality of the gastr...	ORPHA:90362
Paget Disease Of Bone 3	Bone pain, Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Chime Syndrome	Acute leukemia, Supernumerary tooth, Short philtrum, Aplasia/Hypoplasia of the phalanges of the t...	ORPHA:3474
Familial Adenomatous Polyposis 1	Supernumerary tooth, Duodenal polyposis, Adrenocortical adenoma, Eruption failure, Odontoma, Papi...	OMIM:175100
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Hypocalcemia, Short metacarpal, Pseudohypoparathy...	OMIM:603233
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Open mouth, Thin bony cortex	OMIM:176920
Coffin-Lowry Syndrome	Everted lower lip vermilion, Short metacarpal, Delayed skeletal maturation, Wide mouth, Short dis...	ORPHA:192
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu...	ORPHA:1304
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Delayed eruption of teeth, Increased body weight, Congenital hip dislocation, Growth dela...	OMIM:614450
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Delayed skeletal maturation, Short...	OMIM:619638
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillu...	OMIM:619445
Otopalatodigital Syndrome Type 2	Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ...	ORPHA:90652
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hypoparathyroidism, Decreased circulating ACTH concentration, ...	ORPHA:199299
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Maturity-onset diabetes of the young, Short philtrum, High palate, ...	ORPHA:96184
Nasu-Hakola Disease	Reduced bone mineral density, Functional abnormality of the gastrointestinal tract, Bone cyst, Li...	ORPHA:2770
Aarskog-Scott Syndrome	Long philtrum, Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger...	ORPHA:915
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemia...	OMIM:606407
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Postnatal growth retardation, Broad secondary alveolar ridge, High palate, Multiple suture cranio...	ORPHA:3369
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Finger syndactyly, Oligodontia, S...	ORPHA:1787
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol...	OMIM:252100
Systemic Sclerosis	Myocarditis, Osteolytic defects of the phalanges of the hand, Arthritis, Narrow mouth, Pericardit...	ORPHA:90291
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ...	OMIM:170390
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Pyl...	OMIM:613848
Cryptococcosis	Prostatitis, Lymphoid leukemia, Peritonitis, Osteolysis, Pneumonia, Osteomyelitis	ORPHA:1546
12Q14 Microdeletion Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Osteopoikilosis, Intestinal malrotation, S...	ORPHA:94063
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Short stature, Flexion contracture, Knee f...	OMIM:609220
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio...	OMIM:114000
2P21 Microdeletion Syndrome	Hypocalcemia, Hypogonadism, Growth delay	ORPHA:163693
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Abnormality of the dentition, Osteoporosis, Absence of pubertal development, Hypogona...	OMIM:615267
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Hypoplastic iliac wing, Narrow palate, Oligodontia, Camptodactyly, Short palm, Mala...	OMIM:235510
Sponastrime Dysplasia	Disproportionate short-limb short stature, Short long bone, Short dental root, Microdontia, Mesom...	ORPHA:93357
Microsporidiosis	Cachexia, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Weight loss, Pneumonia, Os...	ORPHA:2552
Raine Syndrome	Subperiosteal bone formation, Increased bone mineral density, Gingival overgrowth, Mandibular pro...	OMIM:259775
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Autoamputation of digits, Osteomyelitis	OMIM:613640
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Recurrent otitis media, Short philtrum, High palate, Short foot, In...	ORPHA:254531
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Diarrhea 10, Protein-Losing Enteropathy Type	Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Protein-los...	OMIM:618183
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Hypercalcemia, Hyperph...	OMIM:211900
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter...	OMIM:113000
Q Fever	Myocarditis, Anemia, Increased circulating antibody level, Hepatitis, Granuloma, Pericarditis, Os...	ORPHA:781
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractures, Osteomye...	OMIM:608654
Cleft Lip/Palate	Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila...	ORPHA:199306
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Short philtrum, Hypocalcemia, Short tibia, Decr...	OMIM:607143
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia	ORPHA:428
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Abnormality of the dentition, Bowing of the long bones, Generalized osteoporosis,...	OMIM:617952
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Long philtrum, Joint hypermobility, Craniosynostosis, Exaggerated cupid's b...	ORPHA:369837
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Intrauterine growth retardation, Elbow flexion contracture, Abnorm...	ORPHA:3206
Pseudohypoparathyroidism, Type Ii	Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo...	OMIM:203330
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Sho...	OMIM:616723
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone...	OMIM:618883
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition, Brachydactyly, Short 5th metacarpal	ORPHA:1264
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hypocalcemia, Pancreatic lymphangiectasis, High palate, Postaxial han...	OMIM:235255
Coffin-Siris Syndrome 3	Long philtrum, High palate, Short stature, Delayed skeletal maturation, Cleft palate, Wide mouth,...	OMIM:614608
49,Xxxxy Syndrome	Hypogonadism, Abnormal epiphysis morphology, Joint hypermobility, Coxa valga, Taurodontia, Hip di...	ORPHA:96264
Tetrasomy 12P	Long philtrum, Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Everted lowe...	ORPHA:884
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po...	OMIM:101200
Premature Aging Syndrome, Penttinen Type	Retrognathia, Thin vermilion border, Delayed eruption of teeth, Slender long bone, Narrow philtru...	OMIM:601812
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced bone minera...	ORPHA:2235
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Cranial hyperostosis, Oligodontia, Short stature, Natal tooth, Hypodontia	OMIM:601345
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Short stature, Brachy...	OMIM:613382
Adrenomyodystrophy	Reduced bone mineral density, Primary adrenal insufficiency, Abnormal intestine morphology, Short...	ORPHA:977
Listeriosis	Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Stiff neck, Splenic abscess, C...	ORPHA:533
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec...	OMIM:233710
Codas Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abnormal epiphysi...	ORPHA:1458
48,Xxxy Syndrome	Taurodontia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Delayed eruption of teeth, ...	ORPHA:96263
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E...	OMIM:618342
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Wide distal femoral metaphysis, Small for gestational age, Delayed ...	OMIM:613320
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Hepatic hemangioma, Abnormal bone ossification, Generalized bone de...	ORPHA:73230
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Thick vermilion border, B...	OMIM:616354
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Hyperlipidemia, Joint stiffness, Short distal phalanx of finger, Coxa valga, Hyp...	OMIM:248370
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul...	OMIM:615777
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Wide anterior fontanel, Hyperbilirubinemia, El...	OMIM:614886
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec...	OMIM:233690
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Osteomyelitis, Camptodactyly	ORPHA:88628
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ...	ORPHA:2325
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Disproportionate short-limb short stature, Hypoplastic iliac wing, Short long bone, Short metacar...	OMIM:611717
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Genu valgum, Short stature, Hypoplasia of teeth, Delayed skeletal matur...	OMIM:613312
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Short stature, Hypomagnesemia, Hype...	OMIM:601198
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Genu valgum, Small pituitary gland, Osteoporosis, Decreased testicular size, Cleft pa...	OMIM:614880
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating...	OMIM:146200
Addison Disease	Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ...	ORPHA:85138
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Reduced bone m...	ORPHA:652
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Gapo Syndrome	Abnormal metaphysis morphology, Long philtrum, Abnormal palate morphology, Delayed eruption of te...	ORPHA:2067
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Anorectal anomaly, Bowel incontinence, Multiple suture craniosynosto...	ORPHA:567
Post-Traumatic Pituitary Deficiency	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe...	ORPHA:95619
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Abnormal immunoglobulin level, Conical tooth, Increased circulating IgG level, Chroni...	ORPHA:98813
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Osteogenesis Imperfecta, Type Viii	Osteopenia, Disproportionate short-limb short stature, Slender long bone, Femoral retroversion, F...	OMIM:610915
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Solitary medi...	ORPHA:2712
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Dysphagia, Joint hypermobility, Craniosynostosis, Gastric ulcer, Eosinophilic inf...	OMIM:147060
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, High palate, Sh...	OMIM:614607
Cooper-Jabs Syndrome	Reduced bone mineral density, Abnormal hip bone morphology, Proximal placement of thumb, Short st...	ORPHA:1488
3M Syndrome	Rocker bottom foot, Long philtrum, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinod...	ORPHA:2616
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Protein-losing enteropathy, Hypocalcemia, Pancreatic lymphangiectas...	ORPHA:1655
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Arachnodactyly, Paranasal si...	OMIM:300373
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	High palate, Bilateral cryptorchidism, Pyloric stenosis, Short stature, Craniosynostosis, Thin up...	ORPHA:314575
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Delayed skeletal ...	OMIM:257850
Smith-Magenis Syndrome	Delayed puberty, Hypertriglyceridemia, Joint stiffness, Delayed eruption of primary teeth, Taurod...	ORPHA:819
Codas Syndrome	Genu valgum, Proximal placement of thumb, Gastroesophageal reflux, Rectovaginal fistula, Delayed ...	OMIM:600373
46,Xx Gonadal Dysgenesis	Osteopenia, Delayed puberty, Reduced bone mineral density, Osteoporosis of vertebrae, Short statu...	ORPHA:243
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala...	ORPHA:2919
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita	OMIM:217150
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e...	ORPHA:2050
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Premature loss of teeth, Gingivitis, Recurrent fractures, Hyperparathyroidism	OMIM:618107
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Delayed puberty, Osteoporosis	OMIM:615270
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Xanthelasma, Hepatocellular adenoma, Hypertriglyceridemia, Hyperlipidemia, Thyro...	ORPHA:79259
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Short stature, Micrognathia, Natal tooth, Sagittal craniosynostosis, Tubulointerstitial nephritis	OMIM:616901
Three M Syndrome 2	Small for gestational age, Delayed eruption of teeth, Slender long bone, High palate, Intrauterin...	OMIM:612921
Cole-Carpenter Syndrome 2	Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, High pa...	OMIM:616294
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Short sta...	OMIM:166220
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Clinodactyly of the 5th finger, Tapered distal phalanges of finger, De...	OMIM:620545
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia, Hyperphosphat...	ORPHA:2239
De Barsy Syndrome	Osteopenia, Postnatal growth retardation, Adducted thumb, Delayed eruption of teeth, High palate,...	ORPHA:2962
Dubowitz Syndrome	Sandal gap, Chronic diarrhea, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Joint hyperm...	ORPHA:235
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral ...	ORPHA:93356
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Rectal abscess, Chronic mucocutaneous candidiasis, Gingivitis, Leukocytosis, Osteo...	OMIM:116920
Werner Syndrome	Rocker bottom foot, Neoplasm of the oral cavity, Thyroid carcinoma, Aplasia/Hypoplasia of the tes...	ORPHA:902
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
W Syndrome	Hypoplasia of the ulna, Camptodactyly, Metatarsus adductus, Radial bowing, Clinodactyly, Upper li...	ORPHA:2804
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Congenital pyloric atresia	OMIM:612138
Acrofacial Dysostosis, Weyers Type	Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi...	ORPHA:952
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Genu valgum, Small epiphyses, Upper limb un...	ORPHA:94068
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Rectal abscess, Discoid lupus rash, Granulomatosis, Recurrent bacterial skin infec...	OMIM:306400
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Periodontitis, Delayed eruption of teeth, Abnormal d...	ORPHA:2791
Geroderma Osteodysplasticum	Osteopenia, Periodontitis, Hyperextensibility of the finger joints, Mandibular prognathia, Femora...	OMIM:231070
Spinocerebellar Ataxia-Dysmorphism Syndrome	Reduced bone mineral density, Spina bifida occulta, Slender long bone, Short stature, Downturned ...	ORPHA:1185
Timothy Syndrome	Hypocalcemia, Microdontia, Hypothyroidism, Cutaneous syndactyly, Thin upper lip vermilion	OMIM:601005
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, Prominent fingertip pads, ...	OMIM:617412
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Delayed puberty, Ectrodactyly, Tooth agenesis, Short stature, Cleft upper lip, Clinod...	OMIM:147950
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Mandibular pain, Thyroid carcinoma, Elevated circulating parathyroid hormone level,...	ORPHA:99880
Char Syndrome	Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger...	ORPHA:46627
Double Outlet Right Ventricle	Hypoparathyroidism, Hypocalcemia, Narrow mouth, Intestinal malrotation, Short stature, Cleft pala...	ORPHA:3426
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Disproportionate short-limb short...	ORPHA:1507
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Reduced bone mineral density, Genu valgum, Short philtrum, Spina bifida oc...	ORPHA:2983
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Gastrointestinal hemorrhage, Esophageal varix, Growth delay, Bone marrow hypocellular...	OMIM:617341
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ...	OMIM:143095
4H Leukodystrophy	Delayed puberty, Decreased response to growth hormone stimulation test, Abnormality of thyroid ph...	ORPHA:289494
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Abnormal dental enamel morphology, Increased blood urea nitrogen, Short stature,...	ORPHA:251004
Multiple Myeloma	Osteopenia, Functional abnormality of the gastrointestinal tract, Increased circulating IgG level...	ORPHA:29073
Teebi Hypertelorism Syndrome 1	Dental crowding, Coronal craniosynostosis, Short stature, Micrognathia, Natal tooth, Long philtru...	OMIM:145420
Reactive Arthritis	Recurrent aphthous stomatitis, Arthritis, Joint stiffness, Pericarditis, Pustule, Inflammation of...	ORPHA:29207
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Geogra...	ORPHA:247353
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve...	OMIM:618506
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Postnatal growth retardation, Short first metatarsal, Ulnar bowing, Epiph...	OMIM:619135
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Open bite, H...	ORPHA:3079
Parathyroid Carcinoma	Peptic ulcer, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone ...	ORPHA:143
Chst3-Related Skeletal Dysplasia	Genu valgum, Rhizomelia, Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Short m...	ORPHA:263463
Melnick-Needles Syndrome	Limited elbow extension, Recurrent otitis media, Osteolytic defects of the phalanges of the hand,...	OMIM:309350
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Genu valgum, Abnorm...	ORPHA:582
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Clinodactyly, Taurodontia, Cranial hyperostosis, Carious t...	ORPHA:2710
Nance-Horan Syndrome	Supernumerary tooth, Mandibular prognathia, Short metacarpal, Abnormality of the dentition	ORPHA:627
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, High palate, E...	OMIM:619736
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Delayed puberty, Anemia, Delayed eruption of te...	ORPHA:330015
Osteogenesis Imperfecta	Intestinal obstruction, Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bon...	ORPHA:666
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypocalcemia, Hypothyroidism, Short stature, Brachydactyly, Short distal phal...	ORPHA:1563
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Short stature, M...	OMIM:112240
Congenital Disorder Of Glycosylation, Type Iig	Short long bone, Glossoptosis, Broad femoral neck, Long philtrum, Intrauterine growth retardation...	OMIM:611209
Craniosynostosis And Dental Anomalies	Chronic otitis media, Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed er...	OMIM:614188
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
Emanuel Syndrome	Dental crowding, Bifid uvula, Dysphagia, Hypogonadism, Long philtrum, Intrauterine growth retarda...	ORPHA:96170
Marshall-Smith Syndrome	Retrognathia, Reduced bone mineral density, Slender long bone, Gingival overgrowth, Bowing of the...	ORPHA:561
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Cachexia, Glossoptosis, Tooth agenesis, Arach...	ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Thick lower lip vermilion, Short philtrum, Hyperextensibility of the finger ...	OMIM:309583
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Advanced eruption of teeth, Short philtrum, Camptodactyly, Short stature, Cleft ...	OMIM:619148
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pneumonia, Dental malocclusion, Delayed eruption of teeth, Pancytope...	ORPHA:1855
Rhyns Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pitu...	OMIM:602152
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis	ORPHA:2026
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Hypoplastic pelvis, Hypoplas...	OMIM:616300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Dental crowding, Tibial bowing, Microdontia, Broad thumb, Prominent...	ORPHA:251028
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis	ORPHA:139578
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang...	OMIM:161700
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Short philtrum, Hypocalcemia, Narrow iliac wing, Intrauterine gro...	OMIM:300712
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Autoamputation of digits, Osteomyelitis	OMIM:256800
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve...	OMIM:601957
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, V...	ORPHA:51608
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Hypocalcemia, Abnormal pituitary gland morphology, T...	ORPHA:64744
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Delayed eruption of teeth, Tongue atrophy	OMIM:141300
Short Syndrome	Radial deviation of finger, Small for gestational age, Delayed eruption of teeth, Hypodontia, Sle...	OMIM:269880
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Joint hypermobility, Finger...	OMIM:166200
Frank-Ter Haar Syndrome	Broad alveolar ridges, Short long bone, Wide mouth, Camptodactyly, Osteoporosis, Short palm, Shor...	OMIM:249420
Desmosterolosis	Rhizomelia, Gingival fibromatosis, Bilateral talipes equinovarus, Failure to thrive, Micrognathia...	OMIM:602398
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Reduced bone mineral density, Increased serum bile acid concen...	OMIM:619377
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Short philtrum, Hypocalcemia, Hyperextensibility of the finger joints, 2-3 to...	ORPHA:163979
Kabuki Syndrome 2	Postnatal growth retardation, Recurrent otitis media, Hypodontia, Short 5th finger, Prominent fin...	OMIM:300867
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Bicoronal synostosis, Tracheobronchomalacia, Dental crowding, Oligo...	OMIM:619184
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Postnatal growth retardation, Hypodontia, Gingival...	OMIM:225410
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Delayed skeletal maturation, Sh...	OMIM:210720
Incontinentia Pigmenti	Orofacial cleft, Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology,...	ORPHA:464
Bloom Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Malar rash, Decreased circulating I...	OMIM:210900
Linear Verrucous Nevus Syndrome	Toe syndactyly, Hypophosphatemia, Reduced bone mineral density, Short metacarpal	ORPHA:2611
Trichothiodystrophy	Osteopenia, Retrognathia, High, narrow palate, Anemia, Craniosynostosis, Increased mean corpuscul...	ORPHA:33364
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Postnatal growth retardation, Elbow flexion contracture, Abnormality of the dentition...	OMIM:612394
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exaggerated cup...	ORPHA:364577
Recon Progeroid Syndrome	Thin vermilion border, Anemia, Proximal placement of thumb, Dental crowding, Short stature, Arach...	OMIM:620370
Mandibuloacral Dysplasia	Hypertriglyceridemia, Postnatal growth retardation, Hyperinsulinemia, Abnormal tongue morphology,...	ORPHA:2457
Acrocapitofemoral Dysplasia	Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Hy...	OMIM:607778
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ...	OMIM:601559
Cholestasis-Lymphedema Syndrome	Acholic stools, Gastrointestinal hemorrhage, Reduced bone mineral density, Hyperlipidemia	ORPHA:1414
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Gastrointestinal infarctions, Acute colitis, Diarrhea, Hypocalcemia, Intestinal per...	ORPHA:544482
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Tooth agene...	OMIM:616229
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Ellis-Van Creveld Syndrome	Neonatal short-limb short stature, Genu valgum, Talipes equinovarus, Delayed eruption of teeth, D...	OMIM:225500
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Abnormal finger morphology, Pr...	OMIM:163200
Dermatitis Herpetiformis	Delayed eruption of teeth, Bone pain, Eczematoid dermatitis, Microcytic anemia, Dental enamel pit...	ORPHA:1656
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Broad philtrum, Intrauterine growth retardation, Joint hypermobility, Short uvul...	OMIM:619475
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Retrognathia, Thin vermilion border, Postnatal growth retardation, Proximal placement...	OMIM:212066
Gaucher Disease Type 3	Delayed puberty, Anemia, Increased circulating antibody level, Avascular necrosis, Pancytopenia, ...	ORPHA:77261
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Rocker bottom foot, High palate, Congenital hip dislocation, Multiple prenatal fractu...	OMIM:271225
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,...	ORPHA:2169
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Poems Syndrome	Metaphyseal sclerosis, Increased circulating antibody level, Abnormality of the endocrine system,...	ORPHA:2905
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Bifid distal phalanx...	OMIM:200990
Nocardiosis	Scleritis, Liver abscess, Thyroiditis, Lymphadenitis, Pericarditis, Keratitis, Peritonitis, Conju...	ORPHA:31204
Emanuel Syndrome	Gastroesophageal reflux, Broad jaw, Dental crowding, High palate, Anal atresia, Congenital hip di...	OMIM:609029
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Vomiting, Hype...	ORPHA:26793
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Diarrhea, Hypoch...	OMIM:601678
Autosomal Dominant Robinow Syndrome	Retrognathia, Severe short stature, Long philtrum, Anodontia, Coxa valga, Hip dislocation, Short ...	ORPHA:3107
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Reduced bone mineral density, Narrow mouth, Joint stiff...	ORPHA:1979
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Tibial bowing, ...	ORPHA:93315
Fg Syndrome Type 1	Small pituitary gland, Clinodactyly of the 2nd finger, Dental crowding, Wide mouth, Malrotation o...	ORPHA:93932
Estrogen Resistance Syndrome	Osteopenia, Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Delaye...	ORPHA:785
Multiple Pterygium-Malignant Hyperthermia Syndrome	Long philtrum, Advanced eruption of teeth, Abnormal circulating creatine kinase concentration, Fi...	ORPHA:2215
Velocardiofacial Syndrome	Retrognathia, Hypoparathyroidism, Hypocalcemia, Impaired T cell function, Short stature, Velophar...	OMIM:192430
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia, Persistence of primary teeth	ORPHA:375
Kleefstra Syndrome	Advanced eruption of teeth, Gastroesophageal reflux, Tracheomalacia, Delayed eruption of teeth, M...	ORPHA:261494
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Neoplasm of the thyroid gland, Reduced bone mineral density, Ovarian neoplasm, Recurrent fractures	ORPHA:137608
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Sandal gap, Delayed eruption of teeth, Yellow-brown...	OMIM:619229
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m...	OMIM:602111
Ellis Van Creveld Syndrome	Microdontia, Abnormal oral frenulum morphology, Delayed skeletal maturation, Intrauterine growth ...	ORPHA:289
Pearson Syndrome	Postnatal growth retardation, Steatorrhea, Decreased response to growth hormone stimulation test,...	ORPHA:699
Xp21 Deletion Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Elevated circulating creatine kinase concentr...	ORPHA:261476
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Absence of intrinsic factor	OMIM:243320
Sclerosteosis 1	Tooth malposition, Mandibular prognathia, Abnormal pelvic girdle bone morphology, Deviation of fi...	OMIM:269500
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, 2-3 toe syndactyly, Ol...	ORPHA:37553
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Micrognat...	OMIM:619356
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating creatine kinase concentr...	OMIM:613327
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Hypodontia, Decreased ...	OMIM:300636
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Anterior hypopituitarism, Delayed eruption of teeth, Everted lower l...	ORPHA:181
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo...	OMIM:616507
Mucolipidosis Type Iii Alpha/Beta	Postnatal growth retardation, Recurrent otitis media, Bone pain, Gingival overgrowth, Joint stiff...	ORPHA:423461
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Thin vermilion border, Elbow flexion contracture, Osteoporosis, Pyloric stenosis, Fle...	OMIM:614438
Duplication Of The Pituitary Gland	Supernumerary tooth, Retrognathia, Abnormality of joint mobility, Decreased body weight, Short st...	ORPHA:314621
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Chronic constipation, Long p...	OMIM:618825
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ...	OMIM:258850
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Intestinal pseudo-obstruction, Delayed eruption o...	OMIM:309900
Estrogen Resistance	Osteopenia, Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap...	OMIM:615363
Hereditary Sensory And Autonomic Neuropathy Type 4	Anemia, Abnormal hip bone morphology, Avascular necrosis, Premature loss of teeth, Painless fract...	ORPHA:642
Spondyloocular Syndrome	Osteopenia, Duodenal ulcer, Femur fracture, Abnormality of the dentition, Unilateral cryptorchidi...	OMIM:605822
Osteogenesis Imperfecta, Type Xi	Osteopenia, Coxa vara, Short stature, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hyper...	OMIM:610968
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Denta...	OMIM:268310
Orofaciodigital Syndrome I	Radial deviation of finger, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridge overgrowth, ...	OMIM:311200
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Panniculitis, Anemia, Delayed eruption of teeth, B lymphocytopenia, Gingival overgrowth, Reticulo...	ORPHA:508542
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed puberty, Short stature, Delayed eruption of teeth	ORPHA:1816
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density, Hypergonadotropic hypogonadism	ORPHA:1399
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue, Joint stiffness, Thin bony cortex, Dysphagi...	OMIM:230600
Anauxetic Dysplasia 3	Retrognathia, Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, ...	OMIM:618853
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa...	OMIM:277600
Distal Deletion 12Q	Supernumerary tooth, High, narrow palate, Late onset atopic dermatitis, Clinodactyly of the 5th f...	ORPHA:96149
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Hypoplastic ilia, Arthrogryposis multiplex co...	ORPHA:85201
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Fe...	ORPHA:140
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Eclabion, Carious teeth, Failure to thrive, Natal tooth, Short s...	OMIM:616395
Antley-Bixler Syndrome	Femoral bowing, Narrow mouth, Joint stiffness, Camptodactyly of finger, Arachnodactyly, Cleft pal...	ORPHA:83
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit...	ORPHA:31202
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti...	ORPHA:2494
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout...	OMIM:614753
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Malrotation of colon, Long philtrum, Intraut...	OMIM:122470
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Hyperplasia of the maxilla, Slender long bone, Hypoplastic pelvis, Micro...	OMIM:612731
Wrinkly Skin Syndrome	Osteopenia, Postnatal growth retardation, Delayed eruption of teeth, High palate, Congenital hip ...	ORPHA:2834
Gitelman Syndrome	Delayed puberty, Hypermagnesemia, Neoplasm of the pancreas, Maternal diabetes, Hypokalemia, Diarr...	ORPHA:358
Beta-Thalassemia	Abnormality of iron homeostasis, Reduced bone mineral density, Hypogonadotropic hypogonadism, Cho...	ORPHA:848
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Osteomyelitis leading to amputation due to slow healing fractures, Fail...	OMIM:256810
Cardiofaciocutaneous Syndrome 3	Short stature, Reduced bone mineral density, Wide mouth	OMIM:615279
Kleefstra Syndrome Due To A Point Mutation	Thick lower lip vermilion, Gastroesophageal reflux, Tracheomalacia, Abnormality of the dentition,...	ORPHA:261652
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Cleft palate, Failure of eruption of permanent teeth, Hypogonadis...	ORPHA:2250
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Short stature, Hypogonadism, Abnormal stomach morphology, Cryptorchidism	ORPHA:281090
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Reduced bone mineral density, Recurrent fractures, Short stature	OMIM:619115
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Dental crowding, Thyroid hypoplasia, Internally rotated shoulders, Agenesi...	OMIM:619503
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Calcinosis, Primary hyperparathyroidism, Constipa...	OMIM:239200
Cholera	Abnormal blood ion concentration, Hypokalemia, Diarrhea, Hypocalcemia, Vomiting, Hyponatremia, Ac...	ORPHA:173
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Oligodontia, Short stature, Growth delay, Natal tooth, Dysphagia, Hypo...	OMIM:614381
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Short stature, Enamel hypoplasia, Dysphagia, Hypodontia, Esophageal st...	OMIM:616029
Microphthalmia, Syndromic 2	Sandal gap, Bifid uvula, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculomegaly, Contracture...	OMIM:300166
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Volvulus, Micrognathia, Natal tooth, Dysphagia	OMIM:617802
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Recurrent otitis media, Anemia, Ankyloglossia, Osteoporosis, Failure to thri...	OMIM:619525
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Short tibia, Femoral bowing, Hyp...	OMIM:620076
Rabson-Mendenhall Syndrome	Dental crowding, Increased pineal volume, Intrauterine growth retardation, Increased circulating ...	ORPHA:769
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Marden-Walker Syndrome	Postnatal growth retardation, High, narrow palate, Wide anterior fontanel, High palate, Narrow mo...	OMIM:248700
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Male hypogonadism, Mandibular prognathia, Enamel hypoplasia, Fle...	ORPHA:90322
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Postnatal growth retardation, Genu valgum, Metaphyseal sclerosis, Gastrointestinal te...	OMIM:612199
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Sotos Syndrome	Narrow palate, Advanced eruption of teeth, High, narrow palate, Genu valgum, Mandibular prognathi...	OMIM:117550
Zollinger-Ellison Syndrome	Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel...	ORPHA:913
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Advanced eruption of teeth, Osteol...	ORPHA:280365
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Vo...	ORPHA:94093
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed puberty, Delayed eruption of teeth, Oligodontia, Short stature, Dysphagia, Hypodontia, Hy...	ORPHA:447896
Cockayne Syndrome B	Postnatal growth retardation, Square pelvis bone, Severe failure to thrive, Hypoplastic iliac win...	OMIM:133540
Kleefstra Syndrome 1	Gastroesophageal reflux, Tracheobronchomalacia, Mandibular prognathia, Everted lower lip vermilio...	OMIM:610253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Dental crowding, Broad thumb, Delayed skeletal maturation, Joint ...	ORPHA:353281
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, Hyperinsulinemia, Mandibular prognathia, High palate, Precocious pube...	OMIM:262190
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Hypoparathyroidism, Abnormality of iron homeostasis, Ch...	ORPHA:231222
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Increased bone mineral density, Coarse metaphyseal trabecularization, Hip dysp...	OMIM:620558
Fg Syndrome 3	Pyloric stenosis, Broad thumb, Joint contracture, Broad hallux, Chronic constipation, Cryptorchidism	OMIM:300406
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Hypokalemia, Hypocalcemia, Hypouricemia, Hypothyroidism, Vomiting,...	ORPHA:411634
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Joint hypermobility, Adducted thumb, Intrauterine growt...	OMIM:616603
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pyloric stenosis, Overlapping toe, Avascular n...	OMIM:614262
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Primary Hyperoxaluria	Bone pain, Rootless teeth, Abnormality of the dentition, Failure to thrive, Generalized osteoscle...	ORPHA:416
Dubowitz Syndrome	Aplastic anemia, Delayed skeletal maturation, Syndactyly, Intrauterine growth retardation, Hypoch...	OMIM:223370
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Oligodontia, Hypoproteinemia, Abnormality of the dentition, Anal atres...	ORPHA:2315
Atypical Werner Syndrome	Delayed puberty, Hypertriglyceridemia, Rocker bottom foot, Reduced bone mineral density, Hypogona...	ORPHA:79474
Zellweger Syndrome	Epiphyseal stippling, Wide anterior fontanel, High palate, Pyloric stenosis, Short stature, Prima...	ORPHA:912
Sulfite Oxidase Deficiency, Isolated	Elevated circulating creatine kinase concentration, Episodic vomiting, Delayed eruption of teeth	OMIM:272300
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Tooth agenesis, Mesomelia, Wide mouth, Long philtrum, Intrauterine g...	ORPHA:818
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Abnormality of dental eruption, Clinodactyly of the 5th finger...	ORPHA:96092
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Postnatal growth retardation, Recurrent otitis media,...	OMIM:608940
Colchicine Poisoning	Hypokalemia, Diarrhea, Hypocalcemia, Vomiting, Nausea, Hyponatremia, Hypomagnesemia, Hypophosphat...	ORPHA:31824
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment...	OMIM:610489
Craniofaciofrontodigital Syndrome	Osteopenia, Long philtrum, Gastrointestinal hemorrhage, Gastroesophageal reflux, Gingival overgro...	ORPHA:363705
Liver Disease, Severe Congenital	Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Joint hypermobility, Intrauterine growth re...	OMIM:619991
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Delayed skeletal maturation, S...	OMIM:157980
Wrinkly Skin Syndrome	Osteopenia, Long philtrum, Slender long bone, Delayed eruption of teeth, Wide anterior fontanel, ...	OMIM:278250
Mucopolysaccharidosis, Type Vi	Genu valgum, Avascular necrosis, Delayed eruption of teeth, Hypoplastic iliac wing, Hypoplastic a...	OMIM:253200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Femoral bowing, Everted lower lip vermilion, Arachnodact...	OMIM:600920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353277
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Ethylene Glycol Poisoning	Hyperkalemia, Gastritis, Hypocalcemia, Vomiting, Nausea	ORPHA:31826
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Increased circulating...	OMIM:610199
Werner Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Short stature, Elevated hemoglo...	OMIM:277700
Bone Marrow Failure Syndrome 3	Amelogenesis imperfecta, Reduced bone mineral density, Hyperechogenic pancreas, Hypodontia, Oral ...	OMIM:617052
Apert Syndrome	Narrow palate, Ovarian neoplasm, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger synd...	ORPHA:87
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l...	OMIM:261540
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma, Reduced circulating alpha-1-antitrypsin concentration	OMIM:613490
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ...	ORPHA:157798
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Delayed eruption of teeth	OMIM:617105
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Diarrhea, Pancreatic islet c...	OMIM:131100
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t...	ORPHA:2614
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Supernumerary tooth, Thin vermilion border, Elliptocytosis, Thick...	ORPHA:86818
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Severe postnatal growth retardation, Par...	ORPHA:2237
Campomelic Dysplasia	Disproportionate short-limb short stature, Absent sternal ossification, Dislocated radial head, T...	OMIM:114290
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Equinus calcaneus, Hypoparathyroidism	ORPHA:746
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Limited elbow extension, Gingival overgrowth, High palate, Narrow mouth, Bifid uvu...	OMIM:123790
Williams Syndrome	Abnormal circulating lipid concentration, Everted lower lip vermilion, Tracheoesophageal fistula,...	ORPHA:904
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Decreased circulating cortisol l...	OMIM:146510
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Short philtrum, Delayed e...	OMIM:615866
Schinzel-Giedion Syndrome	Stiff elbow, Retrognathia, Broad alveolar ridges, Tibial bowing, Wide mouth, Dysphagia, Short dis...	ORPHA:798
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Anemia, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delaye...	OMIM:300990
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Roberts Syndrome	Radial deviation of finger, Mesomelic arm shortening, Proximal placement of thumb, Sandal gap, Se...	ORPHA:3103
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,...	ORPHA:536467
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, High palate, Short stature, Arachnoda...	ORPHA:2720
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Kid Syndrome	Delayed pubic bone ossification, Neoplasm of the tongue, Recurrent bacterial skin infections, Equ...	ORPHA:477
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Cor...	OMIM:207410
3P25.3 Microdeletion Syndrome	High, narrow palate, Proximal placement of thumb, Short philtrum, Mandibular prognathia, Pyloric ...	ORPHA:435638
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Diarrhea, Hypercalcemia, Decrease...	ORPHA:94086
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, T lymphocytopenia, De...	OMIM:617237
Periventricular Nodular Heterotopia	Pyloric stenosis, Joint hypermobility, Shoulder dislocation, Gastroesophageal reflux	ORPHA:98892
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Postnatal growth retardation, Conical tooth, Mi...	OMIM:263750
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Chronic diarrhea, Prominent fingertip pads, Everted lower lip vermilion, Microdontia,...	OMIM:615873
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Femoral bowing, Short long bone, Metaphyseal irregular...	OMIM:618019
Kallmann Syndrome	Delayed puberty, Breast hypoplasia, Reduced bone mineral density, Anterior hypopituitarism, Tooth...	ORPHA:478
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Enamel hypoplasia, Arthrogr...	OMIM:226730
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Delayed eruption of teeth, Seborrheic dermatitis, Gingival overgrowth, Micro...	OMIM:301072
X Small Rings	Long philtrum, Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrow...	ORPHA:96201
Cockayne Syndrome Type 1	Postnatal growth retardation, Hypoplasia of the primary teeth, Anemia, Foot joint contracture, Ma...	ORPHA:90321
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Prominent fingertip pads, Intestinal malrotation, Br...	OMIM:305450
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Con...	ORPHA:2750
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Primary hypothyroidism, Severe intrauterine growth retardation, ...	OMIM:243800
Opitz Gbbb Syndrome	Tracheomalacia, Hypodontia, Ectopic anus, Thyroglossal cyst, High palate, Anal atresia, Tracheoes...	ORPHA:2745
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth	OMIM:615905
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Absent tibia, Dysphagia, Absent radius, Bifid femur, ...	OMIM:214800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypopla...	OMIM:618727
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Long philtrum, Sandal gap, Hypocalcemia, Mandibular prognathia, High palate, Constipation, Toe cl...	OMIM:620330
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Delayed eruption o...	ORPHA:568
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Neonatal short-limb short stature, Recurre...	OMIM:100800
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Long philtrum, Short 5th finger, Joint hypermobility, Long toe, Intrauterine ...	ORPHA:508488
Prolidase Deficiency	Reduced bone mineral density, Genu valgum, Abnormal hip bone morphology, Carious teeth, Arachnoda...	ORPHA:742
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Postnatal growth retardation, Retrognathia, Long philtrum, Reduced bone mineral density, Eclabion...	OMIM:620510
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Clinodactyly of the 5th finger, Delayed eruption of teeth, Camptodactyly, Failure to...	OMIM:247200
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Retrognathia, Rectal prolapse, Long philtrum, Gastroesophageal reflux, Tracheomalacia...	OMIM:613177
Cockayne Syndrome A	Square pelvis bone, Severe postnatal growth retardation, Hypoplastic iliac wing, Mandibular progn...	OMIM:216400
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Limitati...	OMIM:211350
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Obesity, Myeloproliferative disorder, Osteomyelitis	ORPHA:70591
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Failure to thrive, ...	OMIM:617865
Charge Syndrome	Delayed puberty, Tracheoesophageal fistula, Dysphagia, Bifid femur, Intrauterine growth retardati...	ORPHA:138
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Aganglionic megacolon, Agammaglobul...	ORPHA:935
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Decrease...	ORPHA:289548
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Micrognathia, Cl...	ORPHA:440354
Hypercalcemia, Infantile, 1	Vomiting, Hypercalcemia, Decreased circulating parathyroid hormone level	OMIM:143880
Chilton-Okur-Chung Neurodevelopmental Syndrome	Wide mouth, Intrauterine growth retardation, Joint hypermobility, Cone-shaped epiphysis, Agenesis...	OMIM:619841
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Aganglionic megacolon, Abnormal tongue morphology...	ORPHA:653
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Decrease...	ORPHA:168558
Myopathy, Centronuclear, X-Linked	Slender toe, High palate, Pyloric stenosis, Arachnodactyly, Flexion contracture, Dental malocclus...	OMIM:310400
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal malrotation, Apla...	ORPHA:2538
Restrictive Dermopathy 1	Rocker bottom foot, Short clavicles, Wide anterior fontanel, Osteolytic defects of the distal pha...	OMIM:275210
Hardikar Syndrome	Hematemesis, Gastric varix, Cleft soft palate, Bilateral cleft palate, Hyperbilirubinemia, Esopha...	OMIM:301068
Robinow Syndrome	Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid distal phalanx...	ORPHA:97360
Craniotubular Dysplasia, Ikegawa Type	Long philtrum, Diaphyseal dysplasia, Thick lower lip vermilion, Broad ischia, Short stature, Broa...	OMIM:619727
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture	OMIM:620232
Rhabdoid Tumor	Neoplasm of the liver, Hypercalcemia	ORPHA:69077
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Natal tooth	ORPHA:99811
Williams-Beuren Syndrome	Microdontia, Early onset of sexual maturation, Joint hypermobility, Long philtrum, Intrauterine g...	OMIM:194050
Aromatase Deficiency	Osteopenia, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Hyperlipi...	ORPHA:91
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Gastroesophageal reflux, Oral...	ORPHA:404448
Isolated Cleft Lip	Chronic otitis media, Supernumerary maxillary incisor, Talipes equinovarus, Small for gestational...	ORPHA:199302
Cog1-Cdg	Osteopenia, Postnatal growth retardation, Rhizomelia, Talipes equinovarus, Short long bone, High ...	ORPHA:263508
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas...	OMIM:274000
2Q37 Microdeletion Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Tracheomalacia, Finger syndactyly, Short m...	ORPHA:1001
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Encopresis, Reduced bone mineral density, Clinodactyly of the 5th finger, Gastroesophageal reflux...	OMIM:616682
Focal Dermal Hypoplasia	Short metacarpal, Intestinal malrotation, Split foot, Joint hypermobility, Midclavicular hypoplas...	OMIM:305600
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Splenic cyst, Fractured rib, Femoral bowing, Short long...	OMIM:618188
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis, Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Cartilage-Hair Hypoplasia	Limited elbow extension, Neonatal short-limb short stature, Impaired lymphocyte transformation wi...	OMIM:250250
Schinzel-Giedion Midface Retraction Syndrome	Postnatal growth retardation, Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing...	OMIM:269150
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Hypodontia, Abnormal dental enamel morphology, Everted lower ...	ORPHA:96169
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Reynolds Syndrome	Gastroesophageal reflux, Arthritis, Abnormal gastric mucosa morphology, Dysphagia, Xerostomia	ORPHA:779
Digeorge Syndrome	High, narrow palate, Cholelithiasis, Gastroesophageal reflux, Hypocalcemia, Short philtrum, High ...	OMIM:188400
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ...	ORPHA:158687
Coffin-Siris Syndrome 1	Duodenal ulcer, Retrognathia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Micro...	OMIM:135900
3Mc Syndrome	Postnatal growth retardation, Orofacial cleft, Caudal appendage, Spina bifida occulta, Bilateral ...	ORPHA:293843
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Coxa v...	OMIM:610682
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Cornelia De Lange Syndrome	Delayed puberty, Proximal placement of thumb, Oligodactyly, Intestinal malrotation, Joint stiffne...	ORPHA:199
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hypertriglyceridemia, Postnatal growth retardation, Genu valgum, Osteolytic defects o...	OMIM:619127
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Talipes equinovarus, Tibial b...	OMIM:612651
Intrinsic Factor Deficiency	Absence of intrinsic factor, Reduced haptoglobin level	OMIM:261000
Non-Functioning Paraganglioma	Nausea, Hypercalcemia, Paraganglioma, Paraganglioma of head and neck	ORPHA:94080
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Osteochondrosis, Supernumerary tooth, Retrognathia, Widely spaced teeth, Polydactyly, Short 5th t...	ORPHA:268261
Trisomy 18P	Thin vermilion border, High, narrow palate, Abnormal finger morphology, Narrow mouth, Bilateral c...	ORPHA:1715
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Abnormal hip bone morphology, Delayed eruption of teeth, Tooth agenesis, Abn...	ORPHA:3353
Distal 22Q11.2 Microdeletion Syndrome	Sandal gap, Bowel incontinence, Arachnodactyly, Short distal phalanx of finger, Joint hypermobili...	ORPHA:261330
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Increased circulat...	ORPHA:97278
Ulnar-Mammary Syndrome	Delayed puberty, Abnormal metacarpal morphology, Breast aplasia, Abnormal morphology of the radiu...	ORPHA:3138
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent fingertip pads, Glossoptosis, Microdontia, Eclabio...	OMIM:602535
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Somatostatinoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Incre...	ORPHA:97283
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Hypercalcemia, Hyperparath...	OMIM:145001
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Postnatal growth retardation, Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Ta...	OMIM:617219
Vipoma	Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypokalemia, Increased circul...	ORPHA:97282
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Pyloric stenosis, Hand polydactyly, Cleft palate, Micrognathia, Craniosy...	ORPHA:261197
Hyperoxaluria, Primary, Type I	Pathologic fracture, Bone pain, Increased bone mineral density	OMIM:259900
Glucagonoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Incre...	ORPHA:97280
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ...	OMIM:304120
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Abnormal...	ORPHA:90796
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip	OMIM:616788
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Restrictive Dermopathy	Osteopenia, Congenital adrenal hypoplasia, Temporomandibular joint ankylosis, Narrow mouth, Decre...	ORPHA:1662
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Retrognathia, Severe intrauterine growth retardation, Short humerus, Joint ...	ORPHA:3455
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Monosomy 13Q34	Postaxial hand polydactyly, Growth delay, Micrognathia, Hypercalcemia, Hematochezia, Postaxial fo...	ORPHA:96168
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Vomiting, Hypercalcemia, Hyperparathyroidism	OMIM:239199
Non-Acquired Panhypopituitarism	Osteopenia, Delayed puberty, Decreased response to growth hormone stimulation test, Absence of se...	ORPHA:90695
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial poly...	OMIM:617088
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Micrognathia, Radial deviation of finger, Clinodactyly	OMIM:188025
Cerebrocostomandibular Syndrome	Postnatal growth retardation, Anal stenosis, Clinodactyly of the 5th finger, Cleft soft palate, G...	OMIM:117650
Zimmermann-Laband Syndrome 1	Long philtrum, Gastroesophageal reflux, Spina bifida occulta, Short philtrum, Hyperextensibility ...	OMIM:135500
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Parathyroid Carcinoma	Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism	OMIM:608266
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Clinodactyly, Short philtrum, Camptodacty...	OMIM:280000
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal...	ORPHA:1876
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abnormal gastric mucosa morphology, Constipati...	ORPHA:263665
Aspartylglucosaminuria	Abnormal cortical bone morphology, Arthritis, Gingival overgrowth, Mandibular prognathia, Abnorma...	ORPHA:93
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal zygomatic bone morphology, Clinodactyly of the 5th finger, Gastroeso...	ORPHA:3342
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Short-Rib Thoracic Dysplasia 12	Short finger, Hypoplastic nipples, Short long bone, Median cleft palate, Hypoplastic scapulae, In...	OMIM:269860
Coffin-Siris Syndrome	Postnatal growth retardation, Thick lower lip vermilion, Delayed eruption of teeth, Short 5th fin...	ORPHA:1465
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Dental crowding, Hiatus hernia, Persistence of primary teeth	OMIM:619769
Lethal Congenital Contracture Syndrome 10	Narrow palate, Stiff neck, Femoral bowing, High palate, Hypoplasia of the thymus, Short long bone...	OMIM:617022
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Long philtrum, Large for gestational age, Delayed eruption of teeth...	ORPHA:77301
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Polycystic ovaries, Diabetes mellitus, Advanced eruption of teeth	ORPHA:2348
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Hyperlipidemia, Bowing...	ORPHA:199276
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Pachyonychia Congenita	Advanced eruption of teeth, Angular cheilitis, Failure to thrive, Natal tooth, Oral leukoplakia, ...	ORPHA:2309
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Acute Adrenal Insufficiency	Delayed puberty, Hyperkalemia, Hyperuricemia, Diarrhea, Adrenal hypoplasia, Androgen insufficienc...	ORPHA:95409
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Increased size of the mandible, Congenital shortened small intesti...	OMIM:300048
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypoplastic facial bones, Short humerus, Long philtrum, Intrauterine growth...	OMIM:264090
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis	OMIM:256840
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Thyroiditis, Hypothyroidism, Sinusitis, Recurrent infection of the gastrointestinal tra...	ORPHA:83471
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth, Abnormality of the endocrine s...	OMIM:129550
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Meckel Syndrome, Type 1	Radial deviation of finger, Intestinal malrotation, Wide mouth, Syndactyly, Intrauterine growth r...	OMIM:249000
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Pituitary dwarfism, Osteoporosis of ve...	ORPHA:95494
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hypocalcemic tetany, Hypomagnesemia, Hyperaldosteronism	ORPHA:73224
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:209885
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Pyloric stenosis, Hypothyroidism, Growt...	OMIM:256300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed eruption ...	ORPHA:369950
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Reduced bone mineral density, Finger syndactyly, Hypothyroidism, Short lower lim...	ORPHA:1556
Hepatoportal Sclerosis	Gastric varix, Gastrointestinal hemorrhage, Hyperbilirubinemia, Esophageal varix, Hepatocellular ...	ORPHA:64743
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Intestinal malrotation, Bifi...	OMIM:270400
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal forearm bone morphology, Sp...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal forearm bone morphology, Sp...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal forearm bone morphology, Sp...	ORPHA:99226
Turner Syndrome	Delayed puberty, Retrognathia, Reduced bone mineral density, Abnormal forearm bone morphology, Sp...	ORPHA:881
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Conjugated hyperbilirubinemia	ORPHA:234
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone...	OMIM:613091
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Decreased circulating total IgM, Pyloric s...	OMIM:615577
Esophageal Atresia	Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract mo...	ORPHA:1199
Frontometaphyseal Dysplasia 2	Delayed puberty, Dislocated radial head, Short metacarpal, Broad thumb, Bifid uvula, Short philtr...	OMIM:617137
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Delayed skeletal m...	OMIM:210710
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism	OMIM:145981
Myoectodermal Gonadal Dysgenesis Syndrome	Limited elbow extension, Thin vermilion border, Hypodontia, Bifid distal phalanx of toe, Anal atr...	OMIM:618419
Ulnar-Mammary Syndrome	Delayed puberty, Stiff elbow, Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasi...	OMIM:181450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Conical tooth, Finger syndactyly, Delayed er...	ORPHA:1071
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Thyroid hypoplasia, Broad thumb, Bifid uvula, Intrauterine g...	ORPHA:672
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Unconjugated hyperbilirubinemia, Bifid uvula, Broad philtrum, Aplasia of the ...	OMIM:620186
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Nausea, ...	ORPHA:276621
Cockayne Syndrome	Delayed puberty, Postnatal growth retardation, Gastroesophageal reflux, Hyperuricemia, Cryptorchi...	ORPHA:191
Poland Syndrome	Finger symphalangism, Reduced bone mineral density, Spina bifida occulta, Aplasia/Hypoplasia of t...	ORPHA:2911
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Deviation of the hallux, Postaxial hand polydactyly, Duplication of phalanx ...	ORPHA:434179
Proximal Renal Tubular Acidosis	Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Diarrhea, Vomiting, Short stature, Gro...	ORPHA:47159
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Preaxial polydactyly, Postaxial hand polydactyly, Micrognathia, Cleft palate...	OMIM:615948
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Micrognathia, Hypodontia	ORPHA:90024
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Oligodontia, Leukocytosis, Short stature, Keratitis, Hy...	OMIM:308300
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss...	ORPHA:1401
Intellectual Developmental Disorder, Autosomal Dominant 54	Widely spaced teeth, Dental crowding, Eczematoid dermatitis, Short stature, Growth delay, Small f...	OMIM:617799
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated circulating calcitonin concentr...	ORPHA:29072
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Hypernatremia, Osmotic diarrhea, Hypercalcemia	ORPHA:35710
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Floating-Harbor Syndrome	Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Clinodactyly, Short philtrum, ...	ORPHA:2044
Genitopatellar Syndrome	Anal stenosis, Knee flexion contracture, Delayed eruption of teeth, Anal atresia, Hypoplastic isc...	OMIM:606170
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Pyloric stenosis, Dysphagia, Knee flexion c...	OMIM:619461
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth, Elevated amniotic fluid alpha-fetoprotein	ORPHA:839
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Retrognathia, Decreased circulating total IgM, Fused cervical verte...	ORPHA:83617
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Vomiting, Nausea,...	ORPHA:466650
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Eczematoid dermatitis, Cleft palate, Natal tooth, Acne inversa	OMIM:617337
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Decreased body weight, Short sta...	OMIM:266270
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Bowel incontinence, Arachnodactyly, Bifid uvula, Dysphagia, Syndactyly, Adducted...	ORPHA:261537
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Mandibular prognathia, Thyroid hypoplasia, Calcaneovalgus deformity, Congenital h...	ORPHA:521445
Degcags Syndrome	Retrognathia, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Intrauterine growth retard...	OMIM:619488
Viss Syndrome	Rocker bottom foot, Retrognathia, Chronic diarrhea, Intestinal malrotation, Arachnodactyly, Malpo...	OMIM:619472
Spinal Cord Injury	Paralytic ileus, Hypercalcemia	ORPHA:90058
Sarcoidosis	Enlarged lacrimal glands, Abnormality of the adrenal glands, Abnormality of the gastrointestinal ...	ORPHA:797
Primrose Syndrome	Delayed puberty, Reduced bone mineral density, Generalized osteoporosis, Joint hypermobility, Sho...	OMIM:259050
Yunis-Varon Syndrome	Absent sternal ossification, Broad alveolar ridges, Flat acetabular roof, Decreased skull ossific...	OMIM:216340
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Bowel incontinence, Abnormal duodenum morphology, Abnormal stomach m...	ORPHA:512
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Clubbing, Gastric varix, Esophageal varix	OMIM:620367
Sotos Syndrome	Ankle flexion contracture, Aganglionic megacolon, Delayed eruption of permanent teeth, Gastroesop...	ORPHA:821
Marden-Walker Syndrome	Retrognathia, Narrow mouth, Pyloric stenosis, Joint stiffness, Camptodactyly of finger, Bifid uvu...	ORPHA:2461
Mowat-Wilson Syndrome	Dental crowding, Everted lower lip vermilion, Bowel incontinence, Bifid uvula, Dysphagia, Syndact...	ORPHA:2152
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia	OMIM:619817
Pachyonychia Congenita 2	Natal tooth, Folliculitis, Angular cheilitis, Oral leukoplakia	OMIM:167210
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hyperuricemia, ...	ORPHA:93111
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Hyperparathyroidism	OMIM:145980
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bowel incontinence, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Dyspha...	ORPHA:261552
Jacobsen Syndrome	Intestinal malrotation, Bone marrow hypocellularity, Abnormality of the anus, Long philtrum, Intr...	ORPHA:2308
Epidermolysis Bullosa Simplex With Pyloric Atresia	Elevated circulating creatine kinase concentration, Congenital pyloric atresia, Vomiting, Flexion...	ORPHA:158684
Enamel-Renal Syndrome	Amelogenesis imperfecta, Abnormal circulating calcium-phosphate regulating hormone concentration,...	ORPHA:1031
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Delayed eruption of teeth, High palate, Micromelia, Epiphyseal dysplasia, Open mout...	ORPHA:1675
Barber-Say Syndrome	Hypoplastic nipples, Wide mouth, Delayed eruption of teeth, Breast aplasia	ORPHA:1231
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Pallister-Killian Syndrome	Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Long philtrum, Alve...	OMIM:601803
Cutis Laxa, Autosomal Recessive, Type Iic	Long philtrum, Dental crowding, Mandibular prognathia, High palate, Hip dysplasia, Median cleft p...	OMIM:617402
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma	ORPHA:247806
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Narrow mouth, Mesiodens	ORPHA:314647
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Recurrent otitis media, Radial deviation of finger, Tooth m...	OMIM:309800
Autosomal Recessive Cutis Laxa Type 1	Pathologic fracture, Pyloric stenosis, Small bowel diverticula, Joint hypermobility, Intrauterine...	ORPHA:90349
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Pyloric...	OMIM:235730
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Branchiooculofacial Syndrome	Proximal placement of thumb, Malrotation of colon, Ectopic thymus tissue, Intrauterine growth ret...	OMIM:113620
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Intestinal atresia, Oral mucosal blisters, Congenital pyloric atresia	ORPHA:79403
Scalp-Ear-Nipple Syndrome	Type I diabetes mellitus, Abnormality of the dentition, Delayed eruption of teeth, Breast aplasia	ORPHA:2036

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 Snx10

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Snx10.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Osteopetrorickets due to Snx10 deficiency in mice results from both failed osteoclast activity and loss of gastric acid-dependent calcium absorption.	PLoS genetics (March 2015)	Snx10^{tm1a(EUCOMM)Raba} Snx10^{tm1c(EUCOMM)Raba}	PMC4374855

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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
Snx10^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Snx10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Snx10^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Snx10^{tm43508(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Snx10^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Snx10^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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Gene: Snx10 MGI:1919232

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

MicroCT E18.5

Human diseases caused by Snx10 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data