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Gene: Ccdc154 MGI:2685163

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
coiled-coil domain containing 154
Synonyms:
LOC207209,  ntl

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Ccdc154 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Ccdc154 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia, Increased bone mineral density OMIM:190320
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Anem... OMIM:259710
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Bone ... OMIM:166600
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Osteolytic defects ... OMIM:265800
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, S... OMIM:259700
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Flynn-Aird Syndrome
Carious teeth, Increased bone density with cystic changes, Osteoporosis, Increased bone mineral d... OMIM:136300
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Broad jaw, Increased bone mineral density ORPHA:178377
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Red... OMIM:265900
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Micrognathia, High palate, Epiphyseal stippling OMIM:614882
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... ORPHA:3352
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteoglosphonic Dysplasia
Micrognathia, Craniosynostosis, Abnormal bone ossification, Tooth agenesis, Multiple unerupted teeth ORPHA:2645
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, De... OMIM:259730
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Broad jaw, Osteopenia, Mandibular osteomyelitis, Recurrent fractures ORPHA:53697
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Isolated Osteopoikilosis
Cleft palate, Sclerosis of foot bone, Sclerotic foci in hand bones, Abnormal bone ossification, T... ORPHA:166119
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Micrognathia, Ascites, Osteopetrosis, Gingival overgrowth, Decreased osteoclast cou... OMIM:259720
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Osteopetrosis OMIM:617306
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Osteogenesis Imperfecta, Type Xii
Micrognathia, High palate, Osteoporosis, Malar flattening, Delayed eruption of teeth, Narrow mout... OMIM:613849
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Micrognathia, Cleft palate, Osteopetrosis, Bifid uvula, Delayed eruption of ... ORPHA:2780
Eiken Syndrome
Thick lower lip vermilion, Delayed tarsal ossification, Short philtrum, Eruption failure, Oligodo... OMIM:600002
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Otodental Dysplasia
Ankylosis, Hypodontia, Pulp calcification, Long philtrum, Taurodontia OMIM:166750
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Abnormality of the dentition, Osteoporosis, Osteopenia OMIM:615269
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... ORPHA:37748
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Delayed eruption of teeth, Osteopenia OMIM:619489
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Crani... OMIM:122860
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Lowry-Maclean Syndrome
Craniosynostosis, Cleft palate, Delayed eruption of teeth OMIM:600252
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Marbach-Rustad Progeroid Syndrome
Hypodontia, Micrognathia, Smooth philtrum, Eruption failure, Reduced bone mineral density, Delaye... OMIM:619322
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminotransferase... OMIM:614876
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Cranioectodermal Dysplasia
Hypodontia, Microdontia, Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Tauro... ORPHA:1515
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Acute hepatic failure, Rickets of the lower... ORPHA:882
Ramon Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Gingival fibromatosi... ORPHA:3019
Familial Expansile Osteolysis
Premature loss of teeth, Thin bony cortex, Pathologic fracture, Fragile teeth, Osteolysis OMIM:174810
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis, Micrognathia ORPHA:1423
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Malar flattening, Advanced ossification of carpal bones... OMIM:215045
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Premature loss of teeth, Anemia, Splenomegaly, Osteopenia, Gingivitis, Recurrent fr... OMIM:618107
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Abnormal cortical bone morphology, Limitation of joint mobility, Patho... ORPHA:166277
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Amelogenesis Imperfecta, Type Ia
Taurodontia, Generalized microdontia, Amelogenesis imperfecta OMIM:104530
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Dysosteosclerosis
Abnormal dental enamel morphology, Delayed eruption of teeth, Coarse metaphyseal trabecularizatio... ORPHA:1782
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Mandibular prognathia, Increased susceptib... ORPHA:2769
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Axial Osteomalacia
Osteomalacia, Increased bone mineral density, Polycystic liver disease OMIM:109130
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Desmosterolosis
Micrognathia, Cleft palate, Osteopetrosis, Bifid uvula, Splenomegaly, Narrow mouth, Increased bon... ORPHA:35107
Otopalatodigital Syndrome Type 1
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusio... ORPHA:90650
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Calvarial hyperostosis, Anemia of ... OMIM:612714
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Open mouth, Calvarial hype... OMIM:176920
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology OMIM:612301
Gaucher Disease Type 1
Hepatomegaly, Gingival bleeding, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenome... ORPHA:77259
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Craniosynostosis, Osteopenia, Joint hypermobility, Recurrent fractures, Persistence ... OMIM:147060
Osteopetrosis With Renal Tubular Acidosis
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High palate, Thrombocytopenia, Leukopenia,... ORPHA:2785
Albers-Schönberg Osteopetrosis
Carious teeth, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... ORPHA:53
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Recurrent m... OMIM:225410
Gorham-Stout Disease
Abnormality of ethmoid bone, Impaired mastication, Osteolysis involving bones of the lower limbs,... ORPHA:73
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Osteopetrosis, Craniosynostosis, Anemia, Delayed eruption of teeth... ORPHA:667
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... ORPHA:79301
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Osteoporosis, Malar flattening, Amelogenesis imperfecta, Elevated hepatic transamin... OMIM:614727
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Joint hyperflexibility, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Taurodontia, Oligodontia OMIM:272980
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth OMIM:612463
Ck Syndrome
Micrognathia, High palate, Malar flattening, Abnormal cortical bone morphology, Joint hypermobili... OMIM:300831
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Osteoporosis, Thin vermilion border, Joint hypermobility, Increased bone mineral d... OMIM:614856
Pycnodysostosis
Carious teeth, Micrognathia, High palate, Hypodontia, Delayed eruption of permanent teeth, Genera... ORPHA:763
Aredyld Syndrome
Hepatomegaly, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced... ORPHA:1133
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... OMIM:228560
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Micrognathia, Increased bone mineral density, Deep philtrum ORPHA:1237
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Cleft palate, Elbow ankylosis, Wide mouth, Mandibular prognathia, Osteopetro... ORPHA:2658
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Narrow palate, Tooth agenes... ORPHA:2063
Frank-Ter Haar Syndrome
Premature loss of teeth, Short philtrum, Wide mouth, Mandibular prognathia, Gingival overgrowth, ... ORPHA:137834
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Micrognathia, High palate, Thin bony cortex, Malar flattening, Obtuse angle of mandible, Osteopen... ORPHA:85184
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Micrognathia, Gingival overgrowth, Osteopenia, Hepatosplenomega... ORPHA:313855
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Gapo Syndrome
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High, narrow palate, Eruption failure, Joi... OMIM:230740
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Osteoporosis OMIM:618234
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Grant Syndrome
Abnormal palate morphology, Micrognathia, Open bite, Abnormal cortical bone morphology, Decreased... ORPHA:2097
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Hyperostosis, Taurodontia, Enamel hypoplasia, Subperiosteal bone formation OMIM:211900
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Arthrogryposis multiplex congenita OMIM:217150
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Macroglossia, Hypoplasia of the zygomatic bone, Abnorm... ORPHA:1798
Otopalatodigital Syndrome, Type I
Cleft palate, Capitate-hamate fusion, Malar flattening, Synostosis of carpal bones, Absent fronta... OMIM:311300
Taurodontism
Taurodontia OMIM:272700
Premature Aging Syndrome, Penttinen Type
Micrognathia, Thin vermilion border, Delayed eruption of teeth, Osteopenia, Hypoplasia of the max... OMIM:601812
Weismann-Netter Syndrome
Calvarial hyperostosis, Delayed eruption of permanent teeth OMIM:112350
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Microdontia, Mandibular prognathia, Sclerosis of skull base, Malar fl... OMIM:269300
Trisomy 9P
Impacted tooth, Non-midline cleft lip, Downturned corners of mouth, Dental crowding ORPHA:236
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, High palate, Epiphyseal stippling, Long philtrum, Jaundice OMIM:614872
Metatropic Dysplasia
Cleft palate, Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodact... ORPHA:2635
Camurati-Engelmann Disease
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Bone marrow hyp... OMIM:131300
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Cherubism
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Submandibular lymph node enl... OMIM:118400
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Diaphyseal sclerosis, Delayed eruption of teeth, Enam... ORPHA:94089
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Epiphyseal stippling OMIM:614870
Dysosteosclerosis
Micrognathia, High palate, Premature loss of teeth, Oligodontia, Sclerosis of skull base, Increas... OMIM:224300
Majeed Syndrome
Hepatomegaly, Leukocytosis, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anem... ORPHA:77297
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Bifid uvula, Delayed eruption of teeth, Joint contracture of the hand, O... OMIM:612350
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, High palate, Cleft palate, Long philtrum, Downturned corners of mouth, Increased bo... ORPHA:163649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia OMIM:608971
Bile Acid Conjugation Defect 1
Hepatomegaly, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated ci... OMIM:619232
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Delayed eruption of teeth, Abnormal trabecular bone morpholog... ORPHA:289176
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Thick upper lip vermilion... ORPHA:2563
Hypophosphatasia, Adult
Carious teeth, Premature loss of permanent teeth, Rickets, Increased susceptibility to fractures,... OMIM:146300
Craniosynostosis And Dental Anomalies
Craniosynostosis, Supernumerary tooth, Delayed eruption of teeth, Coronal craniosynostosis, Hypop... OMIM:614188
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Alpha-Mannosidosis
Widely spaced teeth, Hepatomegaly, Open bite, Macroglossia, Mandibular prognathia, Gingival overg... ORPHA:61
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology, Thin upper lip vermilion ORPHA:2512
Diastrophic Dysplasia
Micrognathia, Cleft palate, Increased bone mineral density, Camptodactyly of finger, Joint stiffn... ORPHA:628
Osteoglophonic Dysplasia
High palate, Eruption failure, Long philtrum, Mandibular prognathia, Increased susceptibility to ... OMIM:166250
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Thin bony cortex, Rickets, Delayed epiphyseal ossification, Delayed eruption of te... OMIM:277440
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Cleft palate, Open bite, Broad jaw, Abnormal dental ena... ORPHA:10
Craniometaphyseal Dysplasia, Autosomal Recessive
Delayed eruption of permanent teeth, Mandibular prognathia, Patchy sclerosis of finger phalanx, F... OMIM:218400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Vacuolated lymphocytes, Cardiomegaly, Gingival overgrowth, Sp... OMIM:269920
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Premature loss of teeth, Osteoporosis, Increased bone mineral density, Recurrent fract... OMIM:239000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Enamel hyp... OMIM:264700
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Partial fusion ... OMIM:305620
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Camptodactyly ... ORPHA:2863
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Thin vermilion border, Splenomegaly, Flexion contracture OMIM:608540
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Hypodontia, Cranial hyperostosis, Oligodontia OMIM:601345
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, High palate, Eruption failure, Long philtrum, Abnormality of the dentition, Dental ... ORPHA:476126
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... ORPHA:98848
Mulibrey Nanism
Hepatomegaly, Hypodontia, Ascites, Hypoplastic frontal sinuses, Thickened cortex of long bones, M... OMIM:253250
Temple-Baraitser Syndrome
Delayed phalangeal epiphyseal ossification, Everted upper lip vermilion, High palate, Wide mouth,... ORPHA:420561
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Craniolenticulosutural Dysplasia
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Micrognathia, Microdontia, Long philtrum, Osteoarthritis, Delayed eruption of teet... OMIM:190350
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Abnormal palate morphology, Lymphadenopathy, Abnormal lymph... ORPHA:100026
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Raine Syndrome
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Malar fl... OMIM:259775
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth, Osteopenia, Osteomyelitis, Gingivitis,... ORPHA:2314
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification... ORPHA:289157
Singleton-Merten Syndrome 1
Carious teeth, Smooth philtrum, Eruption failure, Hypoplasia of the tooth germ, Osteoporosis, Car... OMIM:182250
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with epi... OMIM:211600
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Lipogranulomatosis... OMIM:228000
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Reduced bone mineral density, Micrognathia, High palate, Hypodontia, L... ORPHA:740
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
Beta-Thalassemia
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Reduced bone ... ORPHA:848
Odontochondrodysplasia 1
Long philtrum, Osteoporosis, Delayed eruption of teeth, Joint hypermobility, Dentinogenesis imper... OMIM:184260
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Epiphyseal stippling OMIM:614859
Melnick-Needles Syndrome
Micrognathia, Tooth malposition, Abnormal cortical bone morphology, Delayed eruption of teeth, Cr... ORPHA:2484
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Hypodontia, Oligodontia, Abnormal dental enamel morphology, Splenomegaly, Cholestas... ORPHA:59303
Lowry-Maclean Syndrome
High, narrow palate, Abnormality of the abdominal organs, Cleft palate, Micrognathia, Talon cusp,... ORPHA:2409
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Macroglossia, Delayed eruption of teeth, Broad philtrum, Thick vermil... OMIM:616354
Amish Lethal Microcephaly
Hepatomegaly, Micrognathia, Cleft soft palate, Osteoporosis, Decreased skull ossification, Limita... ORPHA:99742
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth OMIM:612462
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Hypodontia, Micrognathia, Thin vermilion border, Downturned corners of... ORPHA:94063
Dyskeratosis Congenita
Carious teeth, Hepatomegaly, Hypodontia, Thrombocytopenia, Osteoporosis, Neoplasm of the pancreas... ORPHA:1775
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Abnormality of the... OMIM:617952
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Micrognathia, Osteoporosis, Hepatic steatosis, Narrow mouth, Flexion contracture, E... OMIM:615381
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Dens In Dente And Palatal Invaginations
Abnormality of the dentition, Dens in dente OMIM:125300
Familial Adenomatous Polyposis 1
Carious teeth, Eruption failure, Supernumerary tooth, Odontoma, Hepatoblastoma, Abnormality of th... OMIM:175100
Laron Syndrome
Micrognathia, Microdontia, Delayed eruption of teeth, Osteoarthritis, Tooth agenesis ORPHA:633
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Splenomegaly ORPHA:417
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... ORPHA:884
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer OMIM:618852
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micrognathia, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic st... OMIM:301045
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Micrognathia, Cleft palate, High, narrow palate, Open bite, Mandibular ... ORPHA:1452
Sialidosis Type 2
Hepatomegaly, Ascites, Osteoporosis, Splenomegaly, Flexion contracture ORPHA:87876
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Micrognathia, Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth ORPHA:73272
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Cleidocranial Dysplasia
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... OMIM:119600
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, Hepatomegaly, High palate, Hepatic fibrosis, Microdontia, Wide mouth, Macrog... OMIM:266920
Pfapa Syndrome
Abnormal oral cavity morphology, Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly ORPHA:42642
Teebi Hypertelorism Syndrome 1
Natal tooth, Craniosynostosis, Dental crowding, Long philtrum OMIM:145420
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Splenomegaly, Cirrhosis, Hepatic fai... OMIM:607765
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Anemia, Delayed eruptio... ORPHA:2325
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation and fusion, Delayed... ORPHA:915
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Osteoporosis, Malar flattening OMIM:266510
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Open bite, Mandibular prognathia, Abnormality of dental eruption, Downturned corners... ORPHA:1327
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth ORPHA:181393
Familial Tumoral Calcinosis
Hepatomegaly, Abnormal palate morphology, Hyperostosis, Abnormality of the gingiva, Splenomegaly,... ORPHA:53715
Multiple Symmetric Lipomatosis
Joint stiffness, Hepatomegaly ORPHA:2398
Acrocraniofacial Dysostosis
Micrognathia, Cleft palate, Short philtrum, Craniosynostosis, Natal tooth OMIM:201050
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth OMIM:103580
Rothmund-Thomson Syndrome
Carious teeth, Neutropenia, Microdontia, Leukemia, Increased susceptibility to fractures, Supernu... ORPHA:2909
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Tooth Agenesis, Selective, X-Linked, 1
Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo... OMIM:313500
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Odontochondrodysplasia
Retrognathia, Joint hyperflexibility, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal cementum morphology, Eruption failure, ... ORPHA:733
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Smooth philtrum, Epiphyseal stippling, Downturned corners of mouth, Pancytopenia ORPHA:251009
Multicentric Osteolysis, Nodulosis, And Arthropathy
Interphalangeal joint contracture of finger, Micrognathia, Ankle flexion contracture, Metatarsal ... OMIM:259600
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... ORPHA:231222
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Elsahy-Waters Syndrome
Thick lower lip vermilion, High palate, Long philtrum, Mandibular prognathia, Malar flattening, B... OMIM:211380
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Anemia, Delayed eruption of teeth OMIM:614450
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, ... OMIM:272460
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Stomatitis, Periostitis, Osteopenia, Splenomegaly, Neutrophilia, Osteomyelitis, Fus... OMIM:612852
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Anemia, Arthritis ORPHA:375
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Anodontia, Supernumerary tooth, Delayed eruption of teeth, Narrow pala... OMIM:264475
Acrodysostosis
Open bite, Epiphyseal stippling, Mandibular prognathia, Delayed eruption of teeth, Open mouth, Hy... ORPHA:950
Acrofacial Dysostosis, Weyers Type
Hypodontia, Solitary median maxillary central incisor, Advanced eruption of teeth, Conical tooth,... ORPHA:952
X-Linked Hypophosphatemia
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Arthritis, Reduced... ORPHA:89936
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Micrognathia, High palate, Deep philtrum, Osteopenia, Contractures of the large joi... ORPHA:329178
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Oligodontia, Hypoplastic fr... ORPHA:90652
Codas Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormality of dental morphology, E... ORPHA:1458
Calvarial Doughnut Lesions With Bone Fragility
Carious teeth, Recurrent fractures, Osteoporosis, Osteopenia OMIM:126550
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Gaucher Disease Type 3
Hepatomegaly, Increased susceptibility to fractures, Anemia, Splenomegaly, Increased bone mineral... ORPHA:77261
Oculodentodigital Dysplasia
Carious teeth, Cleft palate, Premature loss of teeth, Microdontia, Cleft upper lip, Vertebral hyp... OMIM:164200
Felty Syndrome
Sinusitis, Hepatomegaly, Neutropenia, Synovitis, Lymphadenopathy, Abnormal lymphocyte morphology,... ORPHA:47612
Cockayne Syndrome Type 2
Hepatomegaly, Widely spaced primary teeth, Hypoplasia of the primary teeth, Mandibular prognathia... ORPHA:90322
Oculodentodigital Dysplasia
Carious teeth, Micrognathia, Cleft palate, Cranial hyperostosis, Mandibular prognathia, Hyperosto... ORPHA:2710
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Gardner Syndrome
Supernumerary tooth, Odontoma, Neoplasm of the pancreas, Hepatoblastoma, Abnormality of the denti... ORPHA:79665
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Hall-Riggs Syndrome
Wide mouth, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturned corners of m... ORPHA:2107
Sanjad-Sakati Syndrome
Micrognathia, Long philtrum, Patchy osteosclerosis, Thin vermilion border, Abnormal dental enamel... ORPHA:2323
Smith-Magenis Syndrome
Micrognathia, Cleft palate, Short philtrum, Mandibular prognathia, Cleft upper lip, Tented upper ... ORPHA:819
Gaucher Disease
Hepatomegaly, Gingival bleeding, Hepatitis, Anemia, Abnormal bone structure, Arthrogryposis multi... ORPHA:355
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Thin vermilion border, Delayed epiphyseal ossification, Splenomegaly, Joint laxity OMIM:602557
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Delayed eruption of teeth... OMIM:157980
Craniometaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Sclerosis of skull base, Tooth malposition, Calvarial osteosclerosis OMIM:123000
Blomstrand Lethal Chondrodysplasia
Micrognathia, Long philtrum, Malar flattening, Synostosis of joints, Increased bone mineral densi... ORPHA:50945
Pitt-Hopkins Syndrome
Abnormal palate morphology, Short philtrum, Wide mouth, Failure of eruption of permanent teeth, T... ORPHA:2896
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hepatomegaly, Dense calvaria, Splenomegaly OMIM:252900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... ORPHA:2250
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Cleft palate, High palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... OMIM:170390
Microcephaly, Amish Type
Hepatomegaly, Micrognathia, Flexion contracture OMIM:607196
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Cleft palate, Oligodontia, Long philtrum, Solitary median maxillary c... ORPHA:2712
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Long philtrum, Patchy osteosclerosis, Thin vermilion border, Bifid uvula OMIM:241410
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Osteoporosis OMIM:601979
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Delayed eruption of permanent teeth, Premature loss of teeth, Osteopenia, Periodontitis, Dentinog... OMIM:619269
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dense calvaria, Splenomegaly, Everted lower lip vermilion, Joint stiffness OMIM:252930
Char Syndrome
Symphalangism of the 5th finger, Short philtrum, Malar flattening, Everted lower lip vermilion, T... ORPHA:46627
Hemochromatosis, Type 1
Hepatomegaly, Hepatocellular carcinoma, Ascites, Osteoporosis, Cardiomegaly, Splenomegaly, Cirrho... OMIM:235200
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Narrow mouth, Open mouth OMIM:619356
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... OMIM:257850
Helsmoortel-Van Der Aa Syndrome
Widely spaced teeth, Thick lower lip vermilion, Smooth philtrum, Wide mouth, Long philtrum, Advan... OMIM:615873
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Abnormal abdomen morphology, Rickets, Delayed epiphyseal ossification, Recurren... OMIM:241530
Sclerosteosis 1
Mandibular prognathia, Malar flattening, Sclerotic scapulae, Dental malocclusion, Facial palsy se... OMIM:269500
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Dental crowding OMIM:618825
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:600081
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly, Joint stiffness OMIM:252920
4H Leukodystrophy
Abnormality of the dentition, Hypodontia, Drooling, Delayed eruption of teeth ORPHA:289494
Coffin-Lowry Syndrome
Widely spaced teeth, Thick lower lip vermilion, Hypodontia, High palate, Wide mouth, Delayed erup... ORPHA:192
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... OMIM:112250
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Mucopolysaccharidosis, Type Ii
Widely spaced teeth, Hepatomegaly, Thick lower lip vermilion, Tracheobronchomalacia, Macroglossia... OMIM:309900
Brachydactyly, Type B1
Vertebral fusion, Delayed eruption of permanent teeth, Joint contracture of the hand, Camptodactyly OMIM:113000
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Ascites, Lymphadenopathy, Polycythemia, Sclerosis of hand... ORPHA:2905
Pachydermoperiostosis
Hepatomegaly, Osteoporosis, Anemia, Arthritis, Abnormal cortical bone morphology, Osteomyelitis, ... ORPHA:2796
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Smooth philtrum, Oligodontia, Gingival overgrowth, Malar flattening, Delayed eru... OMIM:235510
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Advanced eruption of teeth, Splenomegaly, Hepatic steatosis ORPHA:2348
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Pancreatic hypoplasia, Neutropenia, Leukemia, Delayed eruption of teeth... ORPHA:811
Mucopolysaccharidosis, Type Iva
Carious teeth, Hepatomegaly, Widely spaced teeth, Wide mouth, Mandibular prognathia, Osteoporosis... OMIM:253000
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Micrognathia, Cholestasis, Jaundice OMIM:614887
48,Xxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96263
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Rothmund-Thomson Syndrome Type 2
Carious teeth, Cleft palate, High palate, Microdontia, Neutropenia, Leukemia, Abnormal dental ena... ORPHA:221016
Mucopolysaccharidosis, Type Ivb
Carious teeth, Hepatomegaly, Widely spaced teeth, Wide mouth, Mandibular prognathia, Osteoporosis... OMIM:253010
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Gapo Syndrome
Abnormal palate morphology, Micrognathia, Long philtrum, Mandibular prognathia, Delayed eruption ... ORPHA:2067
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypodontia, Abnormality of primary molar morphology, N... ORPHA:1830
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Malar flattening, Bifid ... OMIM:607812
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Zimmermann-Laband Syndrome
Hepatomegaly, Micrognathia, Cleft palate, High palate, Hypodontia, Wide mouth, Macroglossia, Supe... ORPHA:3473
Camurati-Engelmann Disease
Carious teeth, Hepatomegaly, Cortical thickening of long bone diaphyses, Leukopenia, Hyperostosis... ORPHA:1328
Hennekam Syndrome
Pulmonary lymphangiectasia, Short philtrum, Ascites, Lymphadenopathy, Lymphangioma, Supernumerary... ORPHA:2136
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Coffin-Siris Syndrome 3
Macroglossia, Delayed eruption of permanent teeth, Wide mouth OMIM:614608
Prolidase Deficiency
Carious teeth, Hepatomegaly, Micrognathia, Hypoplasia of the zygomatic bone, Splenomegaly, Reduce... ORPHA:742
Fibrous Dysplasia Of Bone
Thin bony cortex, Abnormality of the frontal bone, Rickets, Fibrous dysplasia of the bones, Abnor... ORPHA:249
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, Abdominal situs inversus, Supernumerary tooth, Malar flattenin... ORPHA:2108
Free Sialic Acid Storage Disease
Reduced bone mineral density, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Long philt... OMIM:610199
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Taurodontia, Macrodontia ORPHA:3214
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Micrognathia, Pancreatitis, Advanced eruption of teeth, Splenomegaly, Acroosteolysi... ORPHA:280365
Trichothiodystrophy
Carious teeth, High, narrow palate, Neutropenia, Craniosynostosis, Anemia, Osteopenia, Enamel hyp... ORPHA:33364
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... OMIM:616367
49,Xxxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96264
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Porphyria, Congenital Erythropoietic
Cholelithiasis, Joint contracture of the hand, Abnormality of the mouth, Splenomegaly, Pathologic... OMIM:263700
Rothmund-Thomson Syndrome Type 1
Carious teeth, Neutropenia, Microdontia, Leukemia, Abnormal dental enamel morphology, Anemia, Del... ORPHA:221008
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenomegaly, Eleva... OMIM:257200
Neuraminidase Deficiency
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Card... OMIM:256550
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Gingival bleeding, Fulminant hepatitis, Hepatic failure, Elevated hepatic transamin... OMIM:618549
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Micrognathia, Cleft palate, High palate, Flexion contracture of toe, Hip co... ORPHA:800
Short Syndrome
Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of mouth, Dental malocclu... OMIM:269880
Primary Hyperoxaluria
Generalized osteosclerosis, Abnormal dental pulp morphology, Rootless teeth, Elevated hepatic tra... ORPHA:416
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Abnormally ossified vertebrae, Splenomegaly ORPHA:3035
Desmosterolosis
Micrognathia, Cleft palate, Alveolar ridge overgrowth, Generalized osteosclerosis, Joint contract... OMIM:602398
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Hepatomegaly, Chronic neutropenia, Delayed eruption of permanent teeth, Hepatocell... ORPHA:79259
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microc... ORPHA:231214
Dominant Beta-Thalassemia
Malar prominence, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Oste... ORPHA:231226
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Carpenter Syndrome 1
Micrognathia, High palate, Malar flattening, Joint contracture of the hand, Persistence of primar... OMIM:201000
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Thin vermilion border, Malar flattening, Thin upper lip vermilion... OMIM:232400
Nance-Horan Syndrome
Mulberry molar, Supernumerary maxillary incisor, Diastema, Screwdriver-shaped incisors OMIM:302350
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Micrognathia, Cleft palate, Epiphyseal stippling, Intrahepatic biliary dysgenesis, ... OMIM:614866
Triploidy
Hepatomegaly, Micrognathia, Cleft palate, Abnormality of the gallbladder, Wide mouth, Macroglossi... ORPHA:3376
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Micrognathia, Ascites, Thin vermilion border, Anemia, Splenomegaly, Narrow mouth ORPHA:1046
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Faciocardiomelic Syndrome
Micrognathia, Thin bony cortex, Wide mouth, Long philtrum, Osteopenia, Hyperplasia of the maxilla... OMIM:612731
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Ectopic ossification, Increased bone mineral density, Delayed eruption of teeth ORPHA:79444
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
Immunodeficiency 49
Micrognathia, Eosinophilia, Short philtrum, Lymphopenia, Natal tooth OMIM:617237
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Anemia, Calvarial osteosclerosis, Decr... ORPHA:93325
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Taurodontia, Abnormal dental enamel morphology, Camptodactyly of fi... ORPHA:3220
Acrocraniofacial Dysostosis
Micrognathia, Cleft palate, Short philtrum, Craniosynostosis, Advanced eruption of teeth ORPHA:949
Rothmund-Thomson Syndrome, Type 2
Micrognathia, High palate, Microdontia, Annular pancreas, Mandibular prognathia, Supernumerary to... OMIM:268400
Sotos Syndrome
High, narrow palate, High palate, Mandibular prognathia, Advanced eruption of teeth, Narrow palat... OMIM:117550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Acrodysostosis 1 With Or Without Hormone Resistance
Hypodontia, Epiphyseal stippling, Mandibular prognathia, Neonatal epiphyseal stippling, Delayed e... OMIM:101800
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Arthritis, Splenomegaly OMIM:602390
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Abnormal cortical bone morphology, Cholelithiasis, Hepatic failure OMIM:614886
Aspartylglucosaminuria
Carious teeth, Hepatomegaly, Macroglossia, Mandibular prognathia, Gingival overgrowth, Arthritis,... ORPHA:93
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, High palate, Arthrogryposis multiplex congenita, Splenom... ORPHA:85212
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Micrognathia, Smooth philtrum, High, narrow palate, Ankle flexion contracture, Knee... OMIM:608799
Galactosemia
Hepatomegaly, Ascites, Reduced bone mineral density, Cirrhosis, Hepatic failure, Elevated hepatic... ORPHA:352
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Micrognathia, Generalized bone demineralization, Abnormal bone ossification, Hypero... ORPHA:73230
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Delayed eruption of teeth, Oligodontia OMIM:614381
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Wilson Disease
Hepatomegaly, Hepatocellular carcinoma, Osteoarthritis, Osteoporosis, Drooling, Cirrhosis, Joint ... OMIM:277900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis, Re... OMIM:613101
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Abnormal dental enamel morphology, Delayed eruption of teeth... ORPHA:534
Malan Syndrome
Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth OMIM:614753
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, High palate, Irregular dentition, Short philtrum, Gingival overgrowth, Delayed erup... OMIM:619148
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Limitation of joint mobility, Thrombocyt... ORPHA:108
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Recurrent aphthous stomatitis OMIM:611762
Cole-Carpenter Syndrome
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth, Recurrent fractures, ... ORPHA:2050
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Micrognathia, Wide mouth, Long philtrum, Aplasia/Hypoplasia of the gallbladd... ORPHA:96092
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Cinca Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Congenital Generalized Lipodystrophy
Hepatomegaly, Bone cyst, Macroglossia, Mandibular prognathia, Cirrhosis, Hepatic steatosis ORPHA:528
Zimmermann-Laband Syndrome 1
Thick lower lip vermilion, Hepatomegaly, High palate, Mandibular prognathia, Gingival overgrowth,... OMIM:135500
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Oral ulce... OMIM:615122
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Delayed eruption of teeth, Reduced bone mineral density, Hyperostosis front... ORPHA:79443
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Trismus OMIM:230900
X-Linked Non-Syndromic Intellectual Disability
Thick lower lip vermilion, Long philtrum, Drooling, Delayed eruption of teeth, Thin upper lip ver... ORPHA:777
Roifman Syndrome
Hepatomegaly, Hip contracture, Long philtrum, Lymphadenopathy, Splenomegaly, Downturned corners o... OMIM:616651
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Dental maloccl... ORPHA:2980
Kleefstra Syndrome 1
Tracheobronchomalacia, U-Shaped upper lip vermilion, Macroglossia, Mandibular prognathia, Malar f... OMIM:610253
Werner Syndrome
Joint stiffness, Neoplasm of the oral cavity, Osteoporosis, Increased bone mineral density ORPHA:902
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia,... ORPHA:507
Classic Galactosemia
Hepatomegaly, Ascites, Osteoporosis, Reduced bone mineral density, Hepatic failure, Elevated hepa... ORPHA:79239
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Emanuel Syndrome
Micrognathia, High palate, Cleft palate, Long philtrum, Submucous cleft lip, Tooth malposition, B... ORPHA:96170
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Micrognathia, High palate, Cleft palate, Pierre-Robin sequence, Flexio... OMIM:300373
Immunodeficiency, Common Variable, 1
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Increased suscepti... OMIM:256810
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Stüve-Wiedemann Syndrome
Thickened cortex of long bones, Osteoporosis, Abnormal cortical bone morphology, Knee flexion con... ORPHA:3206
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Osteoporosis, Cardiomegaly, Arthritis... ORPHA:465508
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Scheie Syndrome
Hepatomegaly, Wide mouth, Splenomegaly, Everted lower lip vermilion, Thick vermilion border, Limi... ORPHA:93474
Immunodeficiency 32B
Sinusitis, Splenomegaly OMIM:226990
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thick lower lip vermilion, High, narrow palate, Smooth philtrum, Cleft palate, Short philtrum, Th... OMIM:309583
Three M Syndrome 2
High palate, Long philtrum, Malar flattening, Delayed eruption of teeth, Thick vermilion border, ... OMIM:612921
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Delayed eruption of teeth, Drooling, Oligodontia ORPHA:447896
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Essential Thrombocythemia
Myelofibrosis, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:905
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, High palate, Advanced eruption of teeth OMIM:262190
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Anemia, Increased bone mineral density OMIM:127000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Hurler-Scheie Syndrome
Hepatomegaly, Micrognathia, Splenomegaly, Thick vermilion border, Joint stiffness OMIM:607015
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Limitation of joint mobility, Splenomegaly ORPHA:93476
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent sinusitis, Follicular hyperplasia OMIM:240500
Hallermann-Streiff Syndrome
High, narrow palate, Micrognathia, High palate, Decreased number of sternal ossification centers,... OMIM:234100
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Short philtrum, Wide mouth, Micronodular cirrhosis, Thin vermilio... OMIM:606003
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Chst3-Related Skeletal Dysplasia
Flexion contracture, Delayed eruption of teeth, Long philtrum ORPHA:263463
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Salmonella osteomy... OMIM:209950
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Cleft palate, Mandibular prognathia, Malar flattening, Bifid uvu... OMIM:101200
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Myelofibrosis, Splenomegaly, Acute my... ORPHA:86843
Erdheim-Chester Disease
Retroperitoneal fibrosis, Anemia, Osteomyelitis, Increased bone mineral density, Osteolysis ORPHA:35687
Greenberg Dysplasia
Epiphyseal stippling, Malar flattening, Abnormal bone structure, Multiple prenatal fractures, Pat... OMIM:215140
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Micrognathia, Cleft palate, High palate, Agenesis of centr... ORPHA:2751
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Osteoporosis, Rickets OMIM:560000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Dent Disease 1
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Osteomalacia, Recurrent fractures, Sp... OMIM:300009
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hepatomegaly, Widely spaced primary teeth, Hypopla... ORPHA:90321
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Kohlschutter-Tonz Syndrome-Like
Widely spaced teeth, Carious teeth, Smooth philtrum, Drooling, Amelogenesis imperfecta, Delayed e... OMIM:619229
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microdontia, Oligodontia, Malar flattening, Conical tooth, Enamel hypoplasia, Dental malocclusion... OMIM:618727
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Xerostomia, Lymphadenopathy, Arthritis, Sp... ORPHA:809
Cerebellar-Facial-Dental Syndrome
Macrodontia of permanent maxillary central incisor, Contractures involving the joints of the feet... ORPHA:444072
Hurler Syndrome
Hepatomegaly, Microdontia, Gingival overgrowth, Splenomegaly, Hepatosplenomegaly, Thick vermilion... OMIM:607014
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cys... ORPHA:400
3M Syndrome
Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Everted lower lip ve... ORPHA:2616
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Mandibular prognathia, Hyperostosis, Splenomegaly ORPHA:2969
Polycythemia Vera
Hepatomegaly, Gingival bleeding, Acute leukemia, Myelofibrosis, Splenomegaly, Portal hypertension ORPHA:729
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Epiphyseal stippling OMIM:614862
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Macrocephaly/Autism Syndrome