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Gene: Snx10 MGI:1919232

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Gene Summary

Name:
sorting nexin 10
Synonyms:
2410004M09Rik

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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 Snx10em1(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.

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MicroCT E18.5

Embryo reconstruction

6 Images

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Histopathology

Images

2 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.

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
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... ORPHA:667

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Abnormality of ... ORPHA:53
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Premature loss of primary ... ORPHA:93160
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... ORPHA:289157
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... OMIM:259710
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... OMIM:607634
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... OMIM:307800
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o... OMIM:600002
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... OMIM:619073
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph... ORPHA:73
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the dentition, Rickets, Hypophosphatemia, Hypophospha... OMIM:193100
Osteoglosphonic Dysplasia
Severe short stature, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, D... ORPHA:2645
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, Ca... OMIM:259700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ... ORPHA:93324
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Short stature, Hypocalcemia, Reduced bone mineral density ORPHA:172
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the gastrointestinal tract, Short palm, Severe short stature, Abnormal... ORPHA:2176
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... OMIM:265900
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... ORPHA:79106
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed ... OMIM:300554
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Hypocalcemia, Hypophosphatemia, Tooth ab... ORPHA:89937
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Hiatus hernia, Coxa valga, Avascular necrosis of ... ORPHA:1901
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... ORPHA:157215
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... OMIM:615198
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr... ORPHA:324964
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing o... OMIM:241530
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... ORPHA:289176
Hypercholanemia, Familial 1
Fat malabsorption, Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... ORPHA:2501
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Short statur... OMIM:190351
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Metatarsal fracture OMIM:615632
Pseudopseudohypoparathyroidism
Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short... ORPHA:79445
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Cachex... ORPHA:77297
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Growt... OMIM:611490
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal... ORPHA:562
Dent Disease 1
Bulging epiphyses, Short stature, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed ... OMIM:300009
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Short stature, Elevated circulating thyroid-stimulat... OMIM:612462
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Micrognathia, Hi... ORPHA:2780
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Short stature, Micrognathia, Osteopetrosis, Decreased body weight... OMIM:617306
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parat... OMIM:613388
Isolated Osteopoikilosis
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... ORPHA:166119
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... ORPHA:2790
Marbach-Rustad Progeroid Syndrome
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... OMIM:619322
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Short stature, Conjugated hyperbilirubinemia, Diarrhea, Rickets, Cholelithiasis, Fat ... OMIM:211600
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... OMIM:619795
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Celiac Disease, Susceptibility To, 1
Short stature, Celiac disease, Postnatal growth retardation, Diarrhea, Osteoporosis, Rickets, Thy... OMIM:212750
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Carious teeth, Hypomagnesemia, Small hand, Decreased skull ossificat... OMIM:244460
Cystinosis
Short stature, Malabsorption, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Vomiting, Hyp... ORPHA:213
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... ORPHA:53697
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Mycetoma
Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bon... ORPHA:2583
Sanjad-Sakati Syndrome
Hypoparathyroidism, Intestinal obstruction, Short stature, Abnormal dental enamel morphology, Pat... ORPHA:2323
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Abscess, Skin rash, Pustul... OMIM:612852
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Hypokalemia, Rickets, Vomiting OMIM:602722
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos... ORPHA:2314
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated cir... OMIM:612089
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... OMIM:136300
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Short philtrum, De... ORPHA:71267
Tyrosinemia Type 1
Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Osteomyelitis, Osteolytic defects of the phalanges of the hand OMIM:613115
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Hepatospleno... OMIM:612840
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Diarrhea, Rickets, Acholic stools, Steatorrhea, Fat malabsorption,... OMIM:607765
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... OMIM:620099
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea... OMIM:259730
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation OMIM:618541
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone morphology, Limb ... ORPHA:2204
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Pseudohypoparathyroidism Type 1B
Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Short stature, Decreased r... ORPHA:94089
Fanconi Renotubular Syndrome 3
Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth... OMIM:615605
Melorheostosis
Increased bone mineral density, Joint stiffness, Bone pain, Hyperostosis, Arthritis, Ectopic ossi... ORPHA:2485
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho... ORPHA:811
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets, Hypokalemia, Hypophosphatemia OMIM:134600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Abnormality of the dentition, Mic... OMIM:618282
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Short stature, Osteoporosis, Obesity, Short metatars... OMIM:612463
Sapho Syndrome
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... ORPHA:793
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone sti... OMIM:614732
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... OMIM:613849
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... ORPHA:1452
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Desmosterolosis
Increased bone mineral density, Failure to thrive, Severe short stature, Micromelia, Micrognathia... ORPHA:35107
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Macrogloss... ORPHA:1423
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Postnatal growth retardation, Rickets, Abnormal serum bile acid co... ORPHA:79303
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Malabsorption, Postnatal growth retardation, Rickets, Hypophosphatemi... OMIM:227810
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Peptic ulcer, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Hypophos... OMIM:600740
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Short 1st metacarpal, Delayed skeletal maturation, Join... ORPHA:63442
Immunodeficiency 27A
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy... OMIM:209950
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Short stature, Microg... OMIM:259720
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea... OMIM:618476
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short stature, Short toe, Short metatarsal, Osteopor... OMIM:103580
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L... ORPHA:198
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Short stature, Skin rash, Thromb... ORPHA:47
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Delayed eruption of teeth, Short metacarpal, Short stature, Camptodacty... OMIM:612350
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Growth de... OMIM:612301
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Osteomalacia, Recurrent fractures,... ORPHA:1652
Odontochondrodysplasia 1
Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short st... OMIM:184260
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ... ORPHA:453510
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets, Short stature OMIM:611590
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Short stature, Bowing of the legs, Delayed skeletal maturation, Reduced bo... OMIM:617974
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph... ORPHA:534
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Osteoporosis, Rickets, Vomiting, Type I diabetes mellitus OMIM:560000
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Rickets, Hypophosp... ORPHA:2088
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo... ORPHA:2796
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Submucous cleft har... ORPHA:2671
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial... OMIM:122860
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosin... OMIM:147060
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... ORPHA:3019
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... ORPHA:2909
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Refractory Celiac Disease
Villous atrophy, Malabsorption, Chronic diarrhea, Osteoporosis, Hypophosphatemia, Protein-losing ... ORPHA:398063
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis, Intrauterine growth retardation OMIM:600252
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Persistence of primary teeth, Supernu... OMIM:619752
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism, Abnormality of the dentition OMIM:615269
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Atopic dermatitis, Hypochromic microcytic anemia, Growth delay, Osteopetrosis, Thrombocytopenia ORPHA:3240
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, High pala... ORPHA:443811
Cardiospondylocarpofacial Syndrome
Brachydactyly, Severe short stature, High, narrow palate, Short palm, Failure of eruption of perm... ORPHA:3238
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ... ORPHA:2636
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Diarrhea, Osteoporosis, Rickets, Growth delay, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Acne, Camptodactyly of finger, Joint stiffness,... ORPHA:137834
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, H... ORPHA:36913
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... OMIM:269300
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Mi... ORPHA:628
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Bone cyst, Limitation of joint m... ORPHA:2591
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... OMIM:144750
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Satb2-Associated Syndrome Due To A Pathogenic Variant
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Celiac disease, Abnormality ... ORPHA:576283
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... ORPHA:1782
Pycnodysostosis
Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Persistence of ... OMIM:265800
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Prema... ORPHA:667
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Short sta... OMIM:614856
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow... ORPHA:73272
Monosomy 5P
Microretrognathia, Finger syndactyly, Short stature, Recurrent fractures, Small hand, Joint hyper... ORPHA:281
Ck Syndrome
Dental crowding, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bon... OMIM:300831
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Narrow mouth, Reduced bone mineral density, Abnormal pelvic girdle bone morphology... ORPHA:2370
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t... ORPHA:85184
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... OMIM:215045
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,... ORPHA:2635
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... OMIM:190350
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Short stature, Rickets, Hypophosphatemia OMIM:616026
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... OMIM:224300
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor... OMIM:174810
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Open bite, Decreased skull ossification, J... ORPHA:2097
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Short stature, Recurrent fractures, Micrognathia, Persistence of... ORPHA:2785
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulating creatine kinase... OMIM:309000
Immunodeficiency 31C
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem... OMIM:614162
Gracile Bone Dysplasia
Short stature, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased skull ossification, ... OMIM:602361
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph... ORPHA:221016
Mucolipidosis Type Iii
Craniofacial hyperostosis, Short stature, Joint stiffness, Cleft palate, Reduced bone mineral den... ORPHA:577
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Decreased circulating osteocalcin level, Central diabetes insipidus, Long philtrum OMIM:125700
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Micr... OMIM:214150
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Skin rash, Bone pain, Osteolysis, Weight loss, Xan... ORPHA:35687
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Growth delay, Hypocalcemia ORPHA:100025
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Hip contracture, Bowing of the long bones, Severe short stature, ... OMIM:156400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Distal Renal Tubular Acidosis
Short stature, Osteomalacia, Diarrhea, Rickets, Increased susceptibility to fractures, Reduced bo... ORPHA:18
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Chronic Recurrent Multifocal Osteomyelitis 3
Palmoplantar pustulosis, Osteomyelitis, Bone pain OMIM:259680
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Incr... ORPHA:37748
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Pers... ORPHA:93325
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing... ORPHA:221008
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Abnormal fib... ORPHA:2063
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Mi... ORPHA:2484
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic ... ORPHA:405
Neuropathy, Hereditary Sensory, Type Id
Autoamputation of digits, Osteomyelitis OMIM:613708
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Micrognathia, Open bite, Cryptorchidism, Carious teeth, Congenital pyloric ... ORPHA:2617
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... OMIM:119600
Endove Syndrome, Limb-Brain Type
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Triangular tibia, Failure... OMIM:619218
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia... OMIM:277900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, High palate, Amelogenesis i... OMIM:618363
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp... OMIM:182250
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Short stature, Intestinal malrotation, Rickets, Esophageal varix, Reduc... OMIM:613658
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Micrognat... OMIM:617913
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Cleft palate, F... ORPHA:163649
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Short stature, Abnormal dental enamel m... ORPHA:1798
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... OMIM:619718
Brachydactyly, Type E1
Short metacarpal, Moderately short stature, Short metatarsal, Multiple impacted teeth, Short clav... OMIM:113300
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Recurrent fractures, Hypergonadotropic hypogonadism, Increased circulating gonadot... ORPHA:2410
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Lower limb pain, Diaphyseal... OMIM:131300
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Short stature, Abnormality of the dentition, Avascular necrosis of the ... ORPHA:502
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Cleft lip, Osteoporosis, Delayed puberty OMIM:615271
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Duodenal ulcer, Osteomalacia, Gastritis, Elevated circulating C-r... OMIM:619381
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ossification... ORPHA:175
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... ORPHA:950
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thu... ORPHA:476126
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... OMIM:617994
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Hypophosphatasia
Bowing of the long bones, Short stature, Hypercalcemia, Recurrent fractures, Craniosynostosis, Ab... ORPHA:436
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... ORPHA:420561
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Short stature, Recurrent skin infections, Joint stiffness, Postn... OMIM:620210
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Fanconi-Like Syndrome
Pancytopenia, Osteomyelitis OMIM:227850
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Mandibular prognathia, Recurrent fractures, Postnatal growth retardation, Delayed ske... ORPHA:2324
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ... ORPHA:99879
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short stature, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral ... OMIM:618392
Momo Syndrome
Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D... ORPHA:2563
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hy... ORPHA:3145
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... ORPHA:2741
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Tongue fasciculations OMIM:162400
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... OMIM:218400
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Small for gestational age, Abnormal finger flexion c... ORPHA:2980
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... ORPHA:1133
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... ORPHA:1486
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Abnormality of the dentition OMIM:615266
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Hypercalcemia, Abnormality of the dentition, Oligodontia, S... ORPHA:557003
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Short stature, Hypochromic microcytic anemia, Arthritis, Septic arthritis, Failure... OMIM:619423
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Micrognathia, Osteoarthritis, Short toe, Delayed... ORPHA:633
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... OMIM:602080
Insulin-Like Growth Factor I Deficiency
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio... OMIM:608747
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing OMIM:126550
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Short stature, Micromelia, Coxa valga, Cone-... ORPHA:166272
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm o... ORPHA:97289
Gaucher Disease
Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Increased bone mineral density, Short ... ORPHA:355
Ring Chromosome 10 Syndrome
Sandal gap, Aganglionic megacolon, Micrognathia, Tapered finger, Thin vermilion border, Hypocalce... ORPHA:1438
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Tapered finger, Cryptorchidism, Broad... ORPHA:2896
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... OMIM:239000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Hypomagnesemia, Diarrhea, Xerostomia, Clubbing, Hamartomatous polyposis, Hematoche... OMIM:175500
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Growth delay, Hypok... ORPHA:411629
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Abnor... ORPHA:85435
Hennekam Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:2136
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M... ORPHA:2863
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid... ORPHA:171876
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... OMIM:615923
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Increased susceptibility to fractures, Hypophosphatem... ORPHA:3337
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... OMIM:615066
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Diarrhea, Flexion contracture, Osteoporosis, Osteol... OMIM:228600
Bent Bone Dysplasia Syndrome 1
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... OMIM:614592
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Short stature, Camptodactyly of finger, Micrognathia, Abnormality of the dentit... ORPHA:77258
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Short stature, Slender long bones with narrow diaphyses, Int... ORPHA:50811
Autosomal Recessive Primary Microcephaly
Growth delay, Thin upper lip vermilion, Abnormal cortical bone morphology, Short stature ORPHA:2512
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iiy
Hip subluxation, Reduced bone mineral density OMIM:620200
Zimmermann-Laband Syndrome
Hallux valgus, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft pala... ORPHA:3473
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to... ORPHA:2619
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th... OMIM:604757
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Micrognathia, Bowing o... ORPHA:313855
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Abnormality o... OMIM:241500
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... OMIM:272460
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Cranioectodermal Dysplasia 1
High, narrow palate, High palate, Hypocalcemia, Widely spaced teeth, Microdontia, Anodontia, Join... OMIM:218330
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Short stature, Oral-pharyngeal dysphagia, Hypomagnesemia, Metaph... OMIM:219800
Oculoskeletodental Syndrome
Short stature, Hypercalcemia, Cryptorchidism, Elbow flexion contracture, Macroglossia, Oligodonti... OMIM:618440
Rhyns Syndrome
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal... ORPHA:140976
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Foot osteomyelitis, Hammertoe OMIM:600882
Gapo Syndrome
Micrognathia, High, narrow palate, Wide anterior fontanel, Thick lower lip vermilion, Eruption fa... OMIM:230740
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Osteomyelitis OMIM:239840
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Coccidioidomycosis
Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Morbil... ORPHA:228123
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Bone cyst, Hypercalcemia ORPHA:2668
Menkes Disease
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... ORPHA:565
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Abnormal... OMIM:610967
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, High palate, Decreased body weight, Wrist flexion contractur... ORPHA:800
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Osteomyelitis, Abscess, Myositis, Pneumonia, Skin rash, Glomerulonephritis,... ORPHA:36234
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, ... ORPHA:2238
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... ORPHA:10
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang... OMIM:619269
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th... ORPHA:353298
Trisomy 9P
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly... ORPHA:236
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph... OMIM:123000
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor... ORPHA:1328
Lowry-Maclean Syndrome
Osteopenia, Delayed eruption of primary teeth, Craniosynostosis, Micrognathia, Bilateral cryptorc... ORPHA:2409
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... ORPHA:2972
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu... OMIM:211380
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation... OMIM:268400
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent... ORPHA:79665
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenom... OMIM:612714
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Proportionate short stature, Micrognathia, Abnormality of the d... ORPHA:2108
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Osteomyelitis, Lung abscess, Myositis, Maculopapular exanthe... ORPHA:228119
Neuropathy, Hereditary Sensory, Type Ie
Osteomyelitis OMIM:614116
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Deep philtrum, Thrombocytopenia, Micrognathia ORPHA:1237
Osteogenesis Imperfecta, Type Xix
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... OMIM:301014
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Joint stiffness, Del... ORPHA:2107
Hallermann-Streiff Syndrome
Natal tooth, Small for gestational age, Selective tooth agenesis, Proportionate short stature, Mi... OMIM:234100
Craniolenticulosutural Dysplasia
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Car... OMIM:607812
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Short stature, Hypocalcemia, Hypercholesterolemia OMIM:612526
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... ORPHA:50945
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Adrenocortical carcinoma, Supernumerary tooth, Adenomatous col... OMIM:175100
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Camptodactyly, Tooth malp... OMIM:618761
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, High iliac wi... ORPHA:50814
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... ORPHA:449280
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Seizures-Scoliosis-Macrocephaly Syndrome
Overlapping toe, Cryptorchidism, Reduced bone mineral density, Gastroesophageal reflux, Constipat... ORPHA:466926
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Short stature, Camptodactyly... ORPHA:1327
Acrocraniofacial Dysostosis
Short stature, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar de... ORPHA:949
Chime Syndrome
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... ORPHA:3474
Paget Disease Of Bone 3
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis OMIM:167250
Proteus Syndrome
Thin bony cortex, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Open mouth OMIM:176920
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Chronic diarrhea, Functional abnormality of the... ORPHA:90362
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... ORPHA:1304
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h... OMIM:603233
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Celiac dis... ORPHA:199299
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... ORPHA:192
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Short 4th metacarpal, ... OMIM:619638
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... ORPHA:90652
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PA... OMIM:619445
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Delayed skeleta... OMIM:614450
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retardation, ... ORPHA:96184
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... ORPHA:157965
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Nasu-Hakola Disease
Limitation of joint mobility, Bone cyst, Functional abnormality of the gastrointestinal tract, Re... ORPHA:2770
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro... ORPHA:3369
Hypotonia-Cystinuria Syndrome
Tented upper lip vermilion, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:606407
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short palm, Finger syndactyly, Short stature, Camptodactyly of finger,... ORPHA:915
Systemic Sclerosis
Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf... ORPHA:90291
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... OMIM:608940
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short stature, Micrognathia, High, narrow palate, Supernumerary tooth, Delayed... ORPHA:1787
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Abnormality of the dentition, Osteoporosis, Absence of pubertal development, Hypogona... OMIM:615267
Cryptococcosis
Lymphoid leukemia, Osteomyelitis, Pneumonia, Peritonitis, Osteolysis, Prostatitis ORPHA:1546
2P21 Microdeletion Syndrome
Growth delay, Hypogonadism, Hypocalcemia ORPHA:163693
12Q14 Microdeletion Syndrome
Diabetes mellitus, Short stature, Intestinal malrotation, Micrognathia, Osteopoikilosis, Downturn... ORPHA:94063
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis, Female hypogonadism ORPHA:397685
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot... ORPHA:254531
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Autoamputation of digits, Osteomyelitis OMIM:613640
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Coxoauricular Syndrome
Short stature, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal... ORPHA:1508
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... ORPHA:93357
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Abno... OMIM:617952
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finge... OMIM:235510
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Short stature, Rhizomelia, Micro... OMIM:613848
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... OMIM:608654
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Sho... OMIM:259775
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... OMIM:113000
Congenital Disorder Of Glycosylation, Type Ir
Osteopenia, Chronic constipation, Gastroesophageal reflux OMIM:614507
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Downturned corners of ... ORPHA:369837
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Thrombocytopenia, Splenomegaly, ... ORPHA:781
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia, Reduced bone mineral density ORPHA:428
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Overlapping to... OMIM:616723
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Elevated circulating thyroid-st... OMIM:618183
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Stüve-Wiedemann Syndrome
Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smooth tongue, H... ORPHA:3206
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly ORPHA:1264
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Recurrent fractures, Reduc... ORPHA:2235
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomelia, Cryptorchidism, Hyp... OMIM:607143
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... OMIM:248370
Coffin-Siris Syndrome 3
Joint laxity, Short stature, Delayed skeletal maturation, Short distal phalanx of the 5th finger,... OMIM:614608
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Adrenomyodystrophy
Primary adrenal insufficiency, Abnormal intestine morphology, Short stature, Reduced bone mineral... ORPHA:977
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Micrognathia, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymp... OMIM:235255
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Splenomega... OMIM:233710
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Short stature, Cranial hyperostosis, Oligodontia, Hypodontia OMIM:601345
49,Xxxxy Syndrome
Mandibular prognathia, Gastroesophageal reflux, Clinodactyly of the 5th finger, Short stature, Ab... ORPHA:96264
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Abnormal soft palat... ORPHA:884
Listeriosis
Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv... ORPHA:533
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... OMIM:613382
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Brachydactyly, Dental crowding, Splenomegaly, Macroglossia, High palat... OMIM:616354
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Failure to thrive, Brachydactyly, Recurrent fractures, Micrognathia, H... OMIM:601812
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Iliac crest serration, Micromelia, Short stature, Wide distal femoral ... OMIM:613320
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Splenomega... OMIM:233690
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Postnatal growth retardation, Metaphyseal widening, Dysphagia, Triangular shaped di... ORPHA:73230
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... ORPHA:1458
Desbuquois Dysplasia 2
Dental crowding, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Joint la... OMIM:615777
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Flexion contracture of finger, Osteomyelitis, Camptodactyly ORPHA:88628
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Decreased body weight, Dental crowding, Short stature, Persistence of primary teeth, Micrognathia... OMIM:618342
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... ORPHA:96263
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... OMIM:146200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... ORPHA:457395
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Hypophosphatemic Rickets, Autosomal Recessive, 2
Short stature, Coxa valga, Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of... OMIM:613312
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:85138
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Wide anterior fontanel, Growth delay, Hyperbilirubin... OMIM:614886
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Genu valgum, Small pituitary gland, Decre... OMIM:614880
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I... OMIM:601198
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Gingival fibromat... ORPHA:2025
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Reduced bone mineral density... ORPHA:1488
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int... ORPHA:69087
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Conical tooth, Abnormal immunoglobulin level, Chronic diarrhea, Increased circulating... ORPHA:98813
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Anorectal anomaly, Hypoplasia of the thymus, Gastroesopha... ORPHA:567
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Short thumb, Sub... ORPHA:2712
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Micrognathia, Delayed skeletal m... ORPHA:2067
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Brachydactyly, Sandal gap, Short stature, Delayed skeletal maturation,... OMIM:614607
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Gastroesophageal... OMIM:300373
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... ORPHA:94090
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, T... OMIM:619797
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Short... OMIM:611717
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Orofaciodigital Syndrome Type 2
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Sho... ORPHA:2751
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Cryptorchidism, Pancreatic ... ORPHA:1655
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, Short stature, Craniosynostosis, Bilateral cryptorchidism, Pyloric sten... ORPHA:314575
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig... ORPHA:235
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary teeth, Short ... OMIM:257850
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Short stature, Abn... ORPHA:2616
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Gastroesophageal reflux, Short p... ORPHA:819
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... ORPHA:2919
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hyperparathyroidism, Recurrent fractures, Gingivitis, Premature loss of teeth OMIM:618107
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Short stature, Sagittal craniosynostosis, Micrognathia, Tubulointerstitial nephritis OMIM:616901
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi... ORPHA:93356
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Gingivitis, Chronic mucocutaneous candidiasis, Rectal abscess, Perio... OMIM:116920
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hypothyro... ORPHA:79259
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Small for gestational age, Short stature, Delaye... OMIM:612921
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Char Syndrome
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Persistence of primary te... ORPHA:46627
Osteogenesis Imperfecta, Type Iv
Short stature, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fra... OMIM:166220
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
W Syndrome
Hypoplasia of the ulna, Radial bowing, Acne, Metatarsus adductus, Clinodactyly, Submucous cleft h... ORPHA:2804
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing... OMIM:223800
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Idiopathic Hypercalciuria
Osteopenia, Abnormal circulating calcium concentration, Osteoporosis ORPHA:2197
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora... ORPHA:952
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Splenomega... OMIM:306400
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short stature, Reduced bone mineral density, Downturned corners of mouth, Slender long bone, Join... ORPHA:1185
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Arachnodactyly, Short stature, Increased circulating gonadotropin level... ORPHA:243
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,... OMIM:231070
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Congenital pyloric atresia OMIM:612138
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Downturned corners of mouth, Reduced bone mineral density, Thin vermilion border, Sh... ORPHA:2983
Brachycephaly, Trichomegaly, And Developmental Delay
Short stature, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin ... OMIM:617412
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Hypogonadism, Delayed puberty OMIM:606631
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Short stature, Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft ... OMIM:147950
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Double Outlet Right Ventricle
Hypoparathyroidism, Short stature, Intestinal malrotation, Submucous cleft hard palate, Cleft pal... ORPHA:3426
Werner Syndrome
Increased bone mineral density, Short stature, Rocker bottom foot, Joint stiffness, Osteoporosis,... ORPHA:902
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Hypercalcemia, Primary hyperparathy... ORPHA:99880
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U... ORPHA:94068
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal... ORPHA:2050
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Postnatal growt... ORPHA:2962
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Postnatal growth retardation, ... OMIM:616294
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Weight loss, Arthritis, Inflam... ORPHA:29207
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Hypercalcemia, Abnormal dental enamel morphology, Recurrent fractures, Craniosynos... ORPHA:251004
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
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... OMIM:143095
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine conce... ORPHA:29073
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,... ORPHA:3079
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... OMIM:618506
Timothy Syndrome
Thin upper lip vermilion, Cutaneous syndactyly, Hypocalcemia, Microdontia, Hypothyroidism OMIM:601005
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Uln... OMIM:619135
4H Leukodystrophy
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:289494
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Cheilitis, Arthritis, Hypoal... ORPHA:247353
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Disproportionate sh... ORPHA:263463
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Hypercalcemia, Primary hyperparathy... ORPHA:143
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn... OMIM:309350
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Sagittal craniosynostosis,... OMIM:145420
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... ORPHA:2710
Nance-Horan Syndrome
Mandibular prognathia, Supernumerary tooth, Short metacarpal, Abnormality of the dentition ORPHA:627
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Micrognat... OMIM:222765
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Short stature, Hypocalcemia, Hypothyroidism, Short distal phalanx of finger, ... ORPHA:1563
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Cleft pa... OMIM:619736
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Uveitis, Reduced bone mineral... ORPHA:828
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone ... ORPHA:561
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition ORPHA:2222
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Abnormal dental enamel morphology, Coxa valga, Grayish e... ORPHA:582
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac... ORPHA:666
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Micrognathia, Glossoptosis, High palate, Rhizomelia, Short stature, Squared iliac bon... OMIM:611209
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, S... OMIM:614188
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,... OMIM:309583
Lead Poisoning
Delayed eruption of teeth, Small for gestational age, Skin rash, Delayed skeletal maturation, Cra... ORPHA:330015
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... OMIM:619148
Rhyns Syndrome
Osteopenia, Radial bowing, Short stature, Decreased response to growth hormone stimulation test, ... OMIM:602152
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Emanuel Syndrome
Congenital hip dislocation, Multiple joint contractures, Dental crowding, Micrognathia, Gastroeso... ORPHA:96170
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... ORPHA:251028
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis ORPHA:139578
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor... ORPHA:1855
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... OMIM:161700
Short Syndrome
Joint laxity, Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognat... OMIM:269880
Generalized Arterial Calcification Of Infancy
Osteomalacia, Adrenal calcification, Stippled calcification of the shoulder, Abnormal calcificati... ORPHA:51608
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Short stature, Micrognathia, Cryptorchidism, Hypopl... OMIM:300712
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Autoamputation of digits, Osteomyelitis OMIM:256800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... OMIM:616300
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Short stature, Frontal open bite, Micrognathia, Postnatal growth retard... OMIM:225410
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... OMIM:601957
Frank-Ter Haar Syndrome
Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity... OMIM:249420
Cole-Carpenter Syndrome 1
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro... OMIM:112240
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffuse goiter, Abnorm... ORPHA:64744
Kabuki Syndrome 2
Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip p... OMIM:300867
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Pierre-Robin... OMIM:619184
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... OMIM:166200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Thin upper lip vermilion, ... ORPHA:163979
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Mandibuloacral Dysplasia
Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Micrognathia,... ORPHA:2457
Desmosterolosis
Failure to thrive, Rhizomelia, Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowt... OMIM:602398
Bloom Syndrome
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Bro... OMIM:210900
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... ORPHA:364577
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing... OMIM:612394
Recon Progeroid Syndrome
Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o... OMIM:620370
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... OMIM:619377
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... ORPHA:33364
Incontinentia Pigmenti
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:464
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Acholic stools, Hyperlipidemia, Reduced bone mineral density ORPHA:1414
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... ORPHA:785
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Postaxial polydact... OMIM:617925
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Failure to thrive, Macrodontia, Short stature, Proximal placem... OMIM:212066
Microphthalmia With Limb Anomalies
Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Hig... OMIM:206920
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Short philtrum, High palate, Otitis media, Joint laxity, Overweight, Obesity... OMIM:619475
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal maturation, Bone pai... ORPHA:77261
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Increase... ORPHA:2169
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Nausea, Intestinal perforation, Diarrhea, Secretory diarrhea, Hy... ORPHA:544482
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... OMIM:601678
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Hypoplastic iliac wing, Abno... ORPHA:93315
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra... OMIM:271225
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P... ORPHA:31204
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Abnormal toe morphol... OMIM:163200
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Joint stiffness, Micrognathia, Flexion contracture, Reduced bone mineral density, Narrow mouth, T... ORPHA:1979
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Clubbing of f... ORPHA:2905
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Emanuel Syndrome
Broad jaw, Congenital hip dislocation, Dental crowding, Intestinal malrotation, Delayed eruption ... OMIM:609029
Duplication Of The Pituitary Gland
Short stature, Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cle... ORPHA:314621
Fg Syndrome Type 1
Dental crowding, Micrognathia, Generalized joint laxity, Fused teeth, Gastroesophageal reflux, Hi... ORPHA:93932
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Lactose intolerance, Delayed eruption of teeth, Sandal gap, Carious teeth, Small... OMIM:619229
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ... ORPHA:3107
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Short stature, Recurr... OMIM:616229
Stuve-Wiedemann Syndrome 1
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia... OMIM:601559
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Neoplasm of the thyroid gland, Recurrent fractures, Reduced bone mineral density ORPHA:137608
Velocardiofacial Syndrome
Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Velopharyngeal insuf... OMIM:192430
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... ORPHA:261476
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Delayed skeletal matu... OMIM:602111
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Persistence of primary teeth ORPHA:375
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Recurrent aspiration pneumonia, Alveolar ridge overgrowth, Pai... ORPHA:642
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Exaggerated cup... ORPHA:2215
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Hypoplas... OMIM:615349
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Short stature, Dentinogenesis imperfecta, Osteo... OMIM:616507
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Microdontia, Neonatal short-limb sh... ORPHA:289
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... OMIM:601390
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic... OMIM:619356
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Type I diabe... ORPHA:181
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu... ORPHA:37553
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... ORPHA:261494
Immunodeficiency 33
Delayed eruption of teeth, Increased circulating IgA level, Conical tooth, Decreased circulating ... OMIM:300636
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Cryptorchidism, Pyloric stenosis, Flexion contracture, Osteoporosis, Hip dislocation,... OMIM:614438
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol,... OMIM:615363
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric ste... OMIM:613327
Sclerosteosis 1
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly... OMIM:269500
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, Chronic constipation, Hig... OMIM:618825
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Coxa vara, Inc... OMIM:610968
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,... ORPHA:140
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating... OMIM:239200
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Protruding tongue, Narrow mouth, Gingival overgrowth, Dysphagia, Thi... OMIM:230600
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... ORPHA:83
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Joint stiffness, Reduced bone mineral density ORPHA:1399
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Short stature, Hypodontia, Delayed puberty ORPHA:1816
Distal Deletion 12Q
Late onset atopic dermatitis, Median cleft lip, Failure to thrive in infancy, Broad hallux, Overl... ORPHA:96149
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Cry... ORPHA:432
Trichothiodystrophy 3, Photosensitive
Natal tooth, Lymphopenia, Short stature, Increased circulating IgA level, Carious teeth, Neutrope... OMIM:616395
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Short stature, Micrognathia, Hypoplastic ilia, Crypto... ORPHA:85201
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl... OMIM:612731
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Neuronal Intestinal Pseudoobstruction
Natal tooth, Decreased circulating antibody level, Malabsorption ORPHA:99811
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Diabetes mellitus, Short stature, Malabsorption, Abnormality of the de... ORPHA:2315
Cardiofaciocutaneous Syndrome 3
Wide mouth, Short stature, Reduced bone mineral density OMIM:615279
Anauxetic Dysplasia 3
Short metacarpal, Severe short stature, Joint hypermobility, Hip subluxation, Squared iliac bones... OMIM:618853
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hashimoto thyroiditis, Diarrhea, Hypermagnesemia, Gr... ORPHA:358
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Micrognathia, High, narrow palate, Downturned corners of mouth, High... OMIM:122470
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... OMIM:311200
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Autoamputation of digits, Short stature, Osteomyelitis leading to amputation due to slow healing ... OMIM:256810
Zellweger Syndrome
Short stature, Malabsorption, Micrognathia, Pyloric stenosis, Cryptorchidism, Wide anterior fonta... ORPHA:912
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Eczema, Thrombocytopen... ORPHA:508542
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Short stature, Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... OMIM:612199
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Intestinal pseudo-obstruction, Short stature, Di... OMIM:309900
Beta-Thalassemia
Cholelithiasis, Hypogonadotropic hypogonadism, Abnormality of iron homeostasis, Reduced bone mine... ORPHA:848
Spondyloocular Syndrome
Osteopenia, Long toe, Unilateral cryptorchidism, Duodenal ulcer, Arachnodactyly, Femur fracture, ... OMIM:605822
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Failure of eruption of p... ORPHA:2250
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Accelerated skeletal maturation... OMIM:614753
Cholera
Hyponatremia, Achlorhydria, Diarrhea, Abnormal blood ion concentration, Hypokalemia, Vomiting, Hy... ORPHA:173
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Short stature, Hypogonadotropic hypogonadism, Hip disloca... OMIM:614381
Weill-Marchesani Syndrome 1
Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of the ... OMIM:277600
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... OMIM:620076
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Tapered finger, Abnormality of the dentition, Precocious puberty, Thi... ORPHA:261652
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Hypogonadism, Testicular seminoma ORPHA:281090
Wrinkly Skin Syndrome
Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Carious teeth, ... ORPHA:2834
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... OMIM:619503
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Ankle flexion contracture, Micrognathia, Dysphagia, Volvulus OMIM:617802
Isotretinoin-Like Syndrome
Micrognathia, Postnatal growth retardation, Cleft palate, Gastroesophageal reflux, Hypocalcemia, ... ORPHA:2306
Rabson-Mendenhall Syndrome
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Advanced eruption ... ORPHA:769
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Beta-Thalassemia Intermedia
Osteopenia, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Osteoporosis, Reduced bone min... ORPHA:231222
Marden-Walker Syndrome
Arachnodactyly, Micrognathia, Postnatal growth retardation, High, narrow palate, Cryptorchidism, ... OMIM:248700
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Short stature, Esophageal stricture, Hypodontia, Dysphagia, Enamel hyp... OMIM:616029
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... OMIM:300166
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... ORPHA:913
Sotos Syndrome
Joint laxity, Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, Long m... OMIM:117550
Congenital Disorder Of Glycosylation, Type Iiw
Membranoproliferative glomerulonephritis, Micrognathia, Microcytic anemia, Thrombocytopenia, Supe... OMIM:619525
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Kleefstra Syndrome 1
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Protruding tongue, Persistence ... OMIM:610253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Decreased adipo... ORPHA:280365
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Otitis media, Joint laxity, Broad hallux, Short stature, Supernumerary tooth, Ta... ORPHA:353281
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Hy... OMIM:262190
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... ORPHA:276152
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... ORPHA:94093
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Short stature, Hypogonadotropic hypogonadism, Oligodontia, Hypodontia,... ORPHA:447896
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Flexion contracture, In... ORPHA:90322
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor... ORPHA:411634
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Fg Syndrome 3
Broad hallux, Cryptorchidism, Pyloric stenosis, Chronic constipation, Joint contracture, Broad thumb OMIM:300406
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Int... OMIM:616603
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Decreased circulating IgG lev... OMIM:271510
Primary Hyperoxaluria
Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Bone pain, Rootles... ORPHA:416
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Episodic vomiting, Elevated circulating creatine kinase concentration OMIM:272300
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Camptodac... OMIM:614262
Dubowitz Syndrome
Aplastic anemia, Micrognathia, High palate, Otitis media, Hypocholesterolemia, Clinodactyly of th... OMIM:223370
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima... OMIM:133540
Craniofaciofrontodigital Syndrome
Osteopenia, Gastrointestinal hemorrhage, Joint laxity, Short stature, Pyloric stenosis, Gastroint... ORPHA:363705
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow ... OMIM:600920
Colchicine Poisoning
Hyponatremia, Diarrhea, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Vomiting... ORPHA:31824
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Biliary hyperplasia, Protein-losing enteropathy, Vomiting, Hypoc... OMIM:619991
8P Inverted Duplication/Deletion Syndrome
Micrognathia, Precocious puberty, High, narrow palate, Long fingers, Cryptorchidism, Hip dislocat... ORPHA:96092
Momo Syndrome
Delayed eruption of teeth, Delayed skeletal maturation, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Abnorma... ORPHA:818
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Gastric varix, Hepatocellular carcinoma OMIM:613490
Wrinkly Skin Syndrome
Osteopenia, Microretrognathia, Smooth philtrum, Congenital hip dislocation, Delayed eruption of t... OMIM:278250
Werner Syndrome
Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Diabetes mellitus, Osteoporosis, Re... OMIM:277700
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Thin upper lip vermilion, Diabetes mellitus, Increased circulating thyroglobulin leve... OMIM:610199
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Otitis media, Joint laxity, Syndactyly, Broad hallux,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Otitis media, Joint laxity, Syndactyly, Broad hallux,... ORPHA:353277
Ethylene Glycol Poisoning
Gastritis, Hyperkalemia, Vomiting, Hypocalcemia, Nausea ORPHA:31826
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R... ORPHA:2614
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Micrognathia, Pancreatic steato... OMIM:617052
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Reduced bone mineral density, Agammaglobulinemia, Long fibu... ORPHA:935
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, H... OMIM:131100
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Elliptocytosi... ORPHA:86818
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Epiphyseal dysplasia, Short stature, Pneumonia, Joint stiffness, Cario... OMIM:253200
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal... OMIM:261540
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture OMIM:617105
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Bone marrow hypocellularity, Recurrent sinusit... OMIM:618849
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... ORPHA:87
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Esophageal atresia, Congenital ... OMIM:226730
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Equinus calcaneus ORPHA:746
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Rectal prolapse, Ga... ORPHA:904
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Cleft palate, Parathyroi... ORPHA:2237
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Nance-Horan Syndrome
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... OMIM:302350
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Short stature,... OMIM:300990
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, Anteriorly pl... OMIM:123790
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, High palate, Sho... ORPHA:798
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Gingivitis, Knee flexion contracture... ORPHA:477
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Short stature, Reduced bone mineral density, High palate, Abnormal hip bone morph... ORPHA:2720
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Downturned corners of mouth, Hypocalcemia,... OMIM:243800
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia OMIM:606893
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... OMIM:615866
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen... ORPHA:435638
Periventricular Nodular Heterotopia
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Joint hypermobility ORPHA:98892
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Limb joint contracture, Short stature, Tapered finger, Seborrheic derm... OMIM:301072
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Hyperpho... ORPHA:94086
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... ORPHA:2750
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... OMIM:207410
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... OMIM:263750
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... OMIM:617237
Weill-Marchesani Syndrome 2
Short metacarpal, Short stature, Proportionate short stature, Joint stiffness, Broad metatarsal, ... OMIM:608328
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:478
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Opitz-Kaveggia Syndrome
Multiple joint contractures, Dental crowding, Micrognathia, Anteriorly placed anus, Prominent fin... OMIM:305450
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Short stature, Craniosynostosis, Micrognathia, Cryptorchidism, Cle... ORPHA:2745
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... OMIM:615873
X Small Rings
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syn... ORPHA:96201
Trichothiodystrophy 2, Photosensitive
Short stature, Agenesis of maxillary lateral incisor OMIM:616390
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... ORPHA:90321
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Han... OMIM:214800
Charge Syndrome
Abnormal tibia morphology, Gastroesophageal reflux, Abnormality of bone mineral density, Clinodac... ORPHA:138
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Micromelia, Cleft maxillary alveolar ridge, Finger cl... ORPHA:508488
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Br... OMIM:609465
Prolidase Deficiency
Arachnodactyly, Micrognathia, Carious teeth, Genu valgum, Reduced bone mineral density, Hypoplasi... ORPHA:742
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc... OMIM:618727
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Vipoma
Secretory diarrhea, Benign gastrointestinal tract tumors, Follicular thyroid carcinoma, Hematoche... ORPHA:97282
Achondroplasia
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... OMIM:100800
Microphthalmia, Lenz Type
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... ORPHA:568
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Micrognathia, Cleft palat... OMIM:247200
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Sandal gap, Adrenal hypoplasia, Micrognathia, Pyloric stenosis, Rectal ... OMIM:613177
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth... OMIM:619841
Williams-Beuren Syndrome
Osteopenia, Rectal prolapse, Flexion contracture, Early onset of sexual maturation, Gastroesophag... OMIM:194050
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Inflammation of the large intestine, Osteomyelitis, Obesity ORPHA:70591
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru... OMIM:617865
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Sandal gap, Long fingers, Cutaneou... OMIM:620330
Multiple Endocrine Neoplasia Type 2
Joint laxity, Paraganglioma of head and neck, Aganglionic megacolon, Hypercalcemia, Thyroid C cel... ORPHA:653
Aspartylglucosaminuria
Mandibular prognathia, Abnormal morphology of ulna, Malabsorption, Joint stiffness, Abnormality o... ORPHA:93
Hypercalcemia, Infantile, 1
Vomiting, Hypercalcemia, Decreased circulating parathyroid hormone level OMIM:143880
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Cryptorchidism, Pyloric stenosis, Flexion contracture, Dental malocclusion, Slend... OMIM:310400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... ORPHA:289548
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Carious... OMIM:216400
Rhabdoid Tumor
Neoplasm of the liver, Hypercalcemia ORPHA:69077
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Short stature, Broad femoral neck, Thick lower ... OMIM:619727
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density OMIM:620232
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, Wide a... OMIM:275210
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Vomiting,... ORPHA:168558
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Short stature, Cleft soft palate, Intestinal malrot... OMIM:301068
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p... OMIM:250250
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Short statu... ORPHA:97360
Cog1-Cdg
Osteopenia, Thin upper lip vermilion, Rhizomelia, Micrognathia, Coxa valga, Postnatal growth reta... ORPHA:263508
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... ORPHA:199302
Microgastria-Limb Reduction Defect Syndrome
Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Microgastria, Aplastic clavicle,... ORPHA:2538
Aromatase Deficiency
Osteopenia, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ova... ORPHA:91
3Mc Syndrome
Supernumerary nipple, Craniosynostosis, Bilateral cryptorchidism, Postnatal growth retardation, H... ORPHA:293843
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Pyloric stenosis, Enamel hypoplasia, Syndactyly OMIM:226700
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Intestinal malrotation, Hiatus hernia, Hypoplastic philtrum, Cryptorchidism, Enc... OMIM:616682
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wide distal femoral metaphysis, Postnatal growth retardation, Po... OMIM:269150
Adnp Syndrome
Joint laxity, Thin upper lip vermilion, Broad hallux, Sandal gap, Short stature, Oral-pharyngeal ... ORPHA:404448
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... OMIM:618188
Focal Dermal Hypoplasia
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... OMIM:305600
Reynolds Syndrome
Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Gastroesophageal reflux, Dysphagia ORPHA:779
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Short stature, Abnormality o... ORPHA:96169
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... OMIM:610682
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Malabsorption, Hypothyroidism, Diarrhea, Thyroiditis, Hypocalce... ORPHA:83471
Coffin-Siris Syndrome 1
Conical tooth, Prominent interphalangeal joints, High palate, Short philtrum, Clinodactyly of the... OMIM:135900
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Short stature, Micrognathi... OMIM:619127
Lethal Acantholytic Erosive Disorder
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... ORPHA:158687
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Micrognathi... OMIM:188400
Non-Functioning Paraganglioma
Hypercalcemia, Paraganglioma of head and neck, Nausea, Paraganglioma ORPHA:94080
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Supernumerary nipple, Tracheo... ORPHA:1001
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Intrinsic Factor Deficiency
Reduced haptoglobin level, Absence of intrinsic factor OMIM:261000
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Ele... ORPHA:97278
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Endocrine-Cerebroosteodysplasia
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Micromelia, ... OMIM:612651
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor... ORPHA:3353
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum... ORPHA:3138
Grfoma
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Increased circulating corti... ORPHA:97261
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus,... ORPHA:97283
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Small for gestational age, Cleft soft palate, Failure to thrive in infancy, Tapere... ORPHA:268261
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip OMIM:616788
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Tapered finger, Postnatal growth retardation, Pyloric stenosis, Hip dysplasia, Clinodactyly of th... OMIM:617219
Cornelia De Lange Syndrome
Proximal placement of thumb, Micrognathia, Downturned corners of mouth, High palate, Gastroesopha... ORPHA:199
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... ORPHA:261330
Trisomy 18P
Short stature, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Abn... ORPHA:1715
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Diabetes mellitus,... ORPHA:97280
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo... ORPHA:79500
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, En... ORPHA:90796
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Apla... ORPHA:1662
Marshall-Smith Syndrome
Irregular dentition, Large sternal ossification centers, Bilateral cryptorchidism, Distal widenin... OMIM:602535
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Pyloric stenosis, Cleft palate, Hand polydactyly, Gastroesophagea... ORPHA:261197
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Enamel hypomineralizat... ORPHA:47159
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Clinodactyly, Radial deviation of finger, Micrognathia OMIM:188025
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition OMIM:216300
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Short stature, Accessory oral frenulum, Postaxial polydactyly, Splenomegaly, Su... OMIM:617088
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Vomiting, Hypercalcemia OMIM:239199
Monosomy 13Q34
Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Hematochezia, Postaxial foot polydactyly... ORPHA:96168
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, S... ORPHA:3455
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxia... OMIM:610829
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... ORPHA:3472
Short-Rib Thoracic Dysplasia 12
Natal tooth, Brachydactyly, Hypoplastic scapulae, Median cleft lip, Intestinal malrotation, Hamar... OMIM:269860
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High pala... OMIM:617022
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Hiatus hernia, Coxa valga, Pyloric stenosis... ORPHA:3342
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Gingiv... OMIM:135500
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, C... OMIM:280000
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Diabetes mellitus, Hypertriglyceridemia, Polycystic ovaries ORPHA:2348
Coffin-Siris Syndrome
Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Postnatal growth retardation, ... ORPHA:1465
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Gastroesophageal reflux, Dental crowding, Hiatus hernia OMIM:619769
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia, ... ORPHA:2309
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Bowing of the long bones, Accelerated skeletal maturation, Hy... ORPHA:199276
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hypoplasia, Diarrhea, ... ORPHA:95409
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Acceler... ORPHA:77301
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decre... ORPHA:90695
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis OMIM:256840
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va... OMIM:264090
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... OMIM:300048
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t... OMIM:609638
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Prima... ORPHA:227990
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Ce... ORPHA:227982
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia, Abnormality of the endocrine s... OMIM:129550
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ... ORPHA:3464
Meckel Syndrome, Type 1
Adrenal hypoplasia, Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, ... OMIM:249000
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... OMIM:276820
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hyperlipidemia, Hypothyroidism, Growth delay, Gastroesophageal reflux, Hypoalbu... OMIM:256300
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Orofacial cleft, Reduced bone mineral density, I... ORPHA:1556
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ... OMIM:209885
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Hypoalbuminemia, Gastric varix, Hepatocellular car... ORPHA:64743
Smith-Lemli-Opitz Syndrome
Dental crowding, Proximal placement of thumb, Micrognathia, Gastrointestinal dysmotility, 2-3 toe... OMIM:270400
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti... ORPHA:369950
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Gastrointestinal inf... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Gastrointestinal inf... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Gastrointestinal inf... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, High, narrow palate, Reduced bone mineral density, Gastrointestinal inf... ORPHA:881
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Hamartoma of tongue, Cleft upper lip, P... OMIM:613091
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology ORPHA:234
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Decreased response to growth hormone stimulation test, Pylo... OMIM:615577
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... OMIM:617137
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... ORPHA:1199
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Peptic ulcer OMIM:145981
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... ORPHA:95494
Myoectodermal Gonadal Dysgenesis Syndrome
Smooth philtrum, Short stature, Elevated circulating luteinizing hormone level, Bifid distal phal... OMIM:618419
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... OMIM:181450
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Knee flexion contracture,... OMIM:619461
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Mesoaxial polydactyl... ORPHA:672
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Supernumerary ni... ORPHA:1071
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:276621
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Gastroesophageal reflux, Hypothyroidis... OMIM:620186
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Delayed eruption of permanent teeth ORPHA:839
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory oral fre... ORPHA:434179
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Diabetes mellitus, Abnormal morphology of uln... ORPHA:2911
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Clubbing, Multiple gastric polyps, Hematochez... OMIM:174900
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... OMIM:615948
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia ORPHA:90024
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Eosinophilia, Maculopapular exanthema, Conical tooth, K... OMIM:308300
Cockayne Syndrome
Severe short stature, Abnormal dental morphology, Diabetes mellitus, Delayed eruption of primary ... ORPHA:191
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ... OMIM:104570
Chand Syndrome
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Short stature, Ecz... OMIM:617799
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Arachnodactyly, Overlapping toe, Micrognathia, Biliary hyperplasia, Cryptorchidism, Pyloric steno... ORPHA:83617
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Gastroesophageal reflux, Short ph... ORPHA:2044
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum ORPHA:3214
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Hypoplasti... OMIM:606170
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Vomiting, Hy... ORPHA:466650
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Eczema, Cleft palate, Short philtrum, Acne inversa OMIM:617337
Ramon Syndrome
Delayed eruption of teeth, Short stature, Gingival fibromatosis, Narrow palate, Decreased body we... OMIM:266270
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... ORPHA:521445
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261537
Glucose-Galactose Malabsorption
Diarrhea, Hypernatremia, Vomiting, Hypercalcemia ORPHA:35710
Primrose Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Reduced bone mineral de... OMIM:259050
Yunis-Varon Syndrome
Congenital hip dislocation, Micrognathia, Short metatarsal, High palate, Absent hallux, Short phi... OMIM:216340
Sarcoidosis
Abnormality of the gastrointestinal tract, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Bo... ORPHA:797
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Increased circula... OMIM:619472
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, High palate, Gastroesophageal reflux, Syndac... OMIM:619488
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Sotos Syndrome
Joint laxity, Hip contracture, Aganglionic megacolon, Hypercalcemia, Craniosynostosis, Ankle flex... ORPHA:821
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... ORPHA:512
Marden-Walker Syndrome
Severe short stature, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adduct... ORPHA:2461
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Gastrointestinal dysmotility, Calcaneo... ORPHA:2152
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Mandibular prognathia, Diabetes mellitus, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas, A... ORPHA:93111
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145980
Jacobsen Syndrome
Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger syndactyly, Short stature, Cry... ORPHA:2308
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... ORPHA:261552
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis OMIM:167210
Enamel-Renal Syndrome
Delayed eruption of teeth, Increased circulating osteocalcin level, Abnormality of dental color, ... ORPHA:1031
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Oral mucosal blisters, Flexion contracture, C... ORPHA:158684
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, High palate, Open mou... ORPHA:1675
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Barber-Say Syndrome
Delayed eruption of teeth, Wide mouth, Breast aplasia, Hypoplastic nipples ORPHA:1231
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Mandibular prognathia, Overlapping toe, Dental crowding, Short stature, Bilateral c... OMIM:617402
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Severe short stature, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Sm... ORPHA:90349
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Anteri... OMIM:601803
Apc-Related Attenuated Familial Adenomatous Polyposis
Odontoma, Supernumerary tooth ORPHA:247806
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... OMIM:149730
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Microphthalmia, Syndromic 1
Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Clinod... OMIM:309800
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth ORPHA:314647
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion... ORPHA:1519
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Short stature, Supernumerary nipple, Cryptorchi... OMIM:235730
Branchiooculofacial Syndrome
Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Clinodactyly of the 5th finge... OMIM:113620
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Delayed eruption of primary teeth OMIM:300952
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Type I diabetes mellitus, Breast aplasia, Abnormality of the dentition ORPHA:2036
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Oral mucosal blisters, Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359

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

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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genetics of sexually dimorphic adipose distribution in humans. Nature genetics (February 2023) Snx10tm1a(EUCOMM)Hmgu PMC10375400
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) Snx10tm1a(EUCOMM)Raba Snx10tm1c(EUCOMM)Raba PMC4374855

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Snx10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Snx10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Snx10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Snx10tm43508(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Snx10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Snx10em1(IMPC)Mbp Exon Deletion Mice, Tissue

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