Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alkaline phosphatase, liver/bone/kidney
Synonyms:
Akp2,  Akp-2,  ALP,  TNAP,  TNSALP

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Alpl 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 Alpl by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Dentin Dysplasia, Type I
Periapical bone loss, Microdontia, Taurodontia, Oligodontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Generalized microdontia, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Steatocystoma Multiplex
Natal tooth OMIM:184500
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia ORPHA:2871
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Fragile teeth, Thin... OMIM:174810
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... ORPHA:477781
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Paget Disease Of Bone 4
Osteolysis, Elevated circulating alkaline phosphatase concentration OMIM:606263
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Pyle Disease
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... OMIM:265900
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Dentinogenesis imperfecta, Abnormal cortical bone morphology, Limitation of ... ORPHA:166277
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Cleft palate OMIM:600252
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Hip osteoarthritis, Delayed eruption of teeth, Joint hypermobility ORPHA:63442
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Hypophosphatasia, Adult
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Recur... OMIM:146300
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Osteopenia, Joint hypermobility, Limited pronation/supination of forea... OMIM:610967
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Xanthoma Disseminatum
Osteolysis, Abnormal lip morphology ORPHA:158003
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Oste... ORPHA:73
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... ORPHA:2228
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Hyaline Fibromatosis Syndrome
Osteopenia, Gingival overgrowth, Progressive flexion contractures, Osteoporosis, Flexion contract... OMIM:228600
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Osteopenia, Joint hypermobility, Multiple prenatal fractures, Recurren... OMIM:301014
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi... ORPHA:3019
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific... OMIM:259440
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth OMIM:619787
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... OMIM:613849
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Thin bony cortex, Multiple prenatal fractures, Reduced bone mineral de... OMIM:619795
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth OMIM:190320
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... ORPHA:2325
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth OMIM:619489
Juvenile Hyaline Fibromatosis
Joint stiffness, Gingival overgrowth, Progressive flexion contractures, Gingival fibromatosis, Os... ORPHA:2028
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Premature eruption of permanent teeth, Premature los... ORPHA:1811
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt... OMIM:618761
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel OMIM:203550
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Cortical sclerosis, Abnormal dental morphology... ORPHA:210110
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg... OMIM:112240
Odontochondrodysplasia
Joint hypermobility, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia ORPHA:166272
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Osteoporosis
Osteoporosis OMIM:166710
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho... OMIM:167250
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat... ORPHA:668
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Elevated circulating alkaline phosphatase c... OMIM:615198
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia OMIM:226700
Anonychia With Flexural Pigmentation
Carious teeth ORPHA:69125
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Ectopic tooth eruption OMIM:606893
Hypophosphatemic Rickets, Autosomal Dominant
Abnormality of the dentition, Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulati... OMIM:193100
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Gingi... ORPHA:137834
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Diaphyseal sclerosis,... OMIM:122860
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Calvarial hyperostosis OMIM:112350
Hypophosphatasia, Childhood
Low alkaline phosphatase, Craniosynostosis, Carious teeth, Premature loss of primary teeth OMIM:241510
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Delayed eruption of teeth,... ORPHA:2791
Taurodontism
Taurodontia OMIM:272700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Micrognathia, Supe... ORPHA:3145
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Pseudopseudohypoparathyroidism
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... OMIM:234250
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Carpal osteolysis, Downturned corners of mouth, Camptodactyly of fi... ORPHA:2774
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Carious teeth, Elevated circulating alkaline phosphatase concentration, Osteoporosis,... OMIM:126550
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Recurrent fractures, Increased susceptibility to fractures, Joint hype... OMIM:613982
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperostosis, Torus palatinus, Th... OMIM:144750
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia ORPHA:181
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Micrognathia, Malar flattening, Osteolysis OMIM:176670
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Sagittal craniosynostosis, Right unicoronal synostosis... OMIM:615314
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Reduced bone mineral density ORPHA:2501
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Carious teeth, Tooth agenesis, Micrognathia, Hip contracture, Joint hypermobil... OMIM:618363
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... OMIM:166220
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Vomiting, Failure to thrive, Seizure, Elevated ... OMIM:241500
Propionic Acidemia
Vomiting, Failure to thrive, Cardiomyopathy, Seizure, Pancytopenia, Apnea, Hyperglycinemia, Hyper... OMIM:606054
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, High palate,... OMIM:256030
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Skeletal muscle atrophy, Vomiting, Febrile seizure (within the age range of 3 months to... ORPHA:42
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia, Bowing of limbs due to multiple fractures, Decreased cal... OMIM:259420
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage, Seizure, Hepatic vascular malformations OMIM:116860
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth OMIM:616029
Flynn-Aird Syndrome
Carious teeth, Joint stiffness, Increased bone density with cystic changes, Osteoporosis, Increas... OMIM:136300
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Osteopenia, Increased susceptibility to fractures, Joint hypermobility... OMIM:610968
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypoplasia of teeth, Carious teeth, Hypophosphatemic rickets, Elevated circulating alkaline phosp... OMIM:613312
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Abnormality of ... ORPHA:2863
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormality of the dentition, Radioulnar synostosis, Carious teeth, Abnormal palate morphology ORPHA:3270
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Hypodontia, Ankylos... ORPHA:659
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia ORPHA:251393
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Fetal Gaucher Disease
Stillbirth, Seizure, Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Throm... ORPHA:85212
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Advanced ... ORPHA:952
Keratoderma Hereditarium Mutilans
Osteolysis, Cleft palate ORPHA:494
Craniometadiaphyseal Dysplasia
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s... OMIM:269300
48,Xyyy Syndrome
Long philtrum, Thick lower lip vermilion, Radioulnar synostosis, Enamel hypoplasia, Irregularly s... ORPHA:99329
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth ORPHA:248
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters ORPHA:79411
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border OMIM:618506
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border OMIM:601957
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Decreased muscle mass, Cachexia, Cirrhosis, Weight loss, Macrovesicular hepatic steatos... ORPHA:298
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Joint hypermobility OMIM:619692
Hypocalcemic Vitamin D-Resistant Rickets
Abnormality of the dentition, Coarse metaphyseal trabecularization, Osteomalacia, Premature loss ... ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Rickets, Elevated circulating alkaline phosphatase concentration, Osteomalacia ORPHA:89937
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding OMIM:616617
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Abnormal dental morphology, Microdo... ORPHA:1897
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Pycnodysostosis
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... OMIM:265800
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr... OMIM:616294
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste... OMIM:602080
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Seizure, Respiratory distress, Gait ataxia, Cachexia, Weig... OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Seizure, Slender build, Ragged-red muscle fibers, Gastrointestinal... OMIM:613662
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Seizure, Abnormal cranial nerve morphology, Limb muscle weakness, Myoclo... ORPHA:97229
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Enamel hypoplasia OMIM:226670
Mitochondrial Complex I Deficiency, Nuclear Type 13
Vomiting, Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomy... OMIM:618235
Majeed Syndrome
Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur... ORPHA:77297
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Osteopenia, Increased susceptibility to fractures, Joint hypermobility... OMIM:166200
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Gastroesophageal reflux, Neonatal seizure, Limb myoclonus, Focal clonic ... ORPHA:1949
Variant Abeta2M Amyloidosis
Arthralgia of the hip, Abnormal vascular morphology, Hepatic amyloidosis, Pathologic fracture, Re... ORPHA:314652
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Limitation of joint mobility, Congestive heart failure, Myopathy, Joint ... ORPHA:157973
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Joint hypermobility OMIM:229200
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Thin upper lip vermilion, Low alkaline phosphatase, Dental crowding, Elevated circulating alkalin... OMIM:618879
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Natal tooth, Cranial hyperostosis, Oligodontia OMIM:601345
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Cranial nerve co... ORPHA:52430
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Joint hypermobility, Osteopo... OMIM:184260
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Diarrhea, Vomiti... ORPHA:449285
Osteoglosphonic Dysplasia
Tooth agenesis, Micrognathia, Multiple unerupted teeth, Abnormal bone ossification, Craniosynostosis ORPHA:2645
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Christianson Syndrome
Gastroesophageal reflux, Decreased muscle mass, Generalized-onset seizure, Gait ataxia, Joint hyp... ORPHA:85278
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... ORPHA:1782
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Abnormal gastrointestinal tract morphology, Hip contracture, Intestinal perfo... ORPHA:464321
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim... OMIM:259710
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... ORPHA:53697
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Failure to thrive, Seizure, Camptodac... ORPHA:1617
Dermatitis Herpetiformis
Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth ORPHA:1656
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Delayed eruption of teeth OMIM:614450
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio... ORPHA:331
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Increased bone mineral density, Joint hypermobility, Li... OMIM:614856
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Ele... OMIM:600785
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Oligodontia, Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Laron Syndrome
Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Osteoarthritis ORPHA:633
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Familial Cervical Artery Dissection
Abnormality of connective tissue, Dilatation of the cerebral artery, Transient ischemic attack, P... ORPHA:36382
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Pathologic fracture, Bone pain, Hepatosplenom... ORPHA:98850
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Decre... OMIM:614592
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Apnea, Myoclonus, Clonic seizure, Optic d... OMIM:617235
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Sneddon Syndrome
Seizure, Lymphopenia, Atrophic scars, Ischemic stroke, Stroke, Impaired distal tactile sensation,... OMIM:182410
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Delayed eruption of permanent... OMIM:619269
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Seizure, Furrowed tongue, Stomach cancer, Intestinal polypo... ORPHA:2930
Mirage Syndrome
Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreased body weight, Achala... OMIM:617053
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth OMIM:618825
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasia, Premature l... OMIM:212780
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Joint hypermobility, Osteoporosis, Reduced bone mineral density, Recur... OMIM:616507
Oslam Syndrome
Radioulnar synostosis, Carious teeth ORPHA:2760
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising suscept... OMIM:130060
Tetrasomy 12P
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia OMIM:614564
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Optic atrophy, Mandibular osteomyelitis, Abnormal epiphysis morph... ORPHA:53
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Arthritis ORPHA:375
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:2889
Craniometaphyseal Dysplasia, Autosomal Recessive
Facial hyperostosis, Delayed eruption of permanent teeth, Patchy sclerosis of finger phalanx, Man... OMIM:218400
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal spleen morphology, Abnormal pelvis bone morphology, Ecchymosis, Anem... ORPHA:464329
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Vomiting, Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardiomyopathy,... OMIM:618228
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Failure to thrive, Flared metaphysis, Seizure, Pathologic fractu... OMIM:259700
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hyperte... ORPHA:824
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Dental malocclusion, Dental crowding, Pathologic fracture, Joint stiffness, Mi... OMIM:614008
Gaucher Disease Type 1
Gingival bleeding, Decreased HDL cholesterol concentration, Hepatosplenomegaly, Pancytopenia, Hyp... ORPHA:77259
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Rickets, Abnormal mandible morphology, Osteomalacia, Cortica... ORPHA:249
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Me... ORPHA:1328
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Enthesitis, Tooth abscess, Generalized osteosclerosis, Art... ORPHA:89936
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Vomiting, Failure to thrive, Seizure, Apnea, Episodic vomiting, Ataxia, Hepatomega... OMIM:618226
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Hepatomegaly... ORPHA:289157
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Congestive heart failure, Apnea, Decreased plasma free carnitine, Hepatic stea... OMIM:619048
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Widely spaced teeth, Delayed eruption of teeth, Thick lo... OMIM:619797
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Flexion contracture, Failure to thrive, Seizure ORPHA:500545
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Neutrophilia,... ORPHA:3260
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Recurrent fractures, Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Osteo... OMIM:611490
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Narrow mouth, Open mouth, Microdontia, Delayed eruption of permanent teeth OMIM:619356
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia OMIM:270200
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Thickened... OMIM:253250
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Diarrhea, Seizure, Myoclonus, Splenomegaly, Myositis, H... ORPHA:3452
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,... OMIM:613823
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Seizure, Hypertrophic cardiomyopathy, Apnea, Myopathy OMIM:618236
Monosomy 5P
Small hand, Finger syndactyly, Recurrent fractures, Inguinal hernia, Joint hypermobility, High pa... ORPHA:281
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones, Bone pain ORPHA:57782
Pseudo-Torch Syndrome 3
Lymphadenitis, Seizure, Increased circulating ferritin concentration, Apnea, Leukocytosis, Congen... OMIM:618886
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Widely spaced teeth OMIM:613573
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Classic Glucose Transporter Type 1 Deficiency Syndrome
Seizure, Chorea, Abnormal erythrocyte morphology, Myoclonus, Central apnea, Ataxia, Status epilep... ORPHA:71277
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... ORPHA:98849
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Apnea, Tonic seizure, Bilateral tonic-cl... ORPHA:140927
Ceroid Lipofuscinosis, Neuronal, 10
Vascular granular osmiophilic material deposition, Myoclonic seizure, Seizure, Apnea, Neonatal de... OMIM:610127
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ... ORPHA:1133
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Generalized myoclonic seizure, Apnea, Bradycardia, Focal-onset seizure, Inguinal h... OMIM:614498
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Dyspnea, Pathologic f... OMIM:230800
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Cachexia, Bilateral tonic-clonic seizure, Ataxia, Dysphagia OMIM:618093
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Abnormality of the dentition, Mandibular prognathia, Dental malocclusion ORPHA:1858
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia OMIM:245660
48,Xxyy Syndrome
Ataxia, Gastroesophageal reflux, Seizure, Abnormal shoulder morphology, Decreased testicular size... ORPHA:10
Rett Syndrome
Gastroesophageal reflux, Skeletal muscle atrophy, Seizure, Abnormal T-wave, Apnea, Gait ataxia, I... OMIM:312750
Ollier Disease
Joint stiffness, Osteolysis ORPHA:296
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Nonprogressive muscular atrophy, Joint stiffness, Distal amyotrophy ORPHA:1216
Pontocerebellar Hypoplasia Type 4
Myoclonus, Arthrogryposis multiplex congenita, Seizure, Central apnea ORPHA:166063
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Gastroesophageal reflux, Decreased motor nerve conduction velocity, Seizure, Facia... OMIM:618186
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia OMIM:612843
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Infantile Systemic Hyalinosis
Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Osteomalacia, Camptodactyly of f... ORPHA:2176
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth OMIM:616108
Joubert Syndrome 33
Apnea, Syndactyly, Splenomegaly, Ataxia OMIM:617767
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures, Seizure OMIM:619884
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Microdontia, ... ORPHA:50814
Flynn-Aird Syndrome
Skeletal muscle atrophy, Impaired pain sensation, Seizure, Atherosclerosis, Joint stiffness, Cach... ORPHA:2047
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Apnea, Decreased body weight, Ataxia ORPHA:99852
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Rickets, Delayed eruption of teeth, Elevated circ... OMIM:277440
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Seizure, Focal clonic seizure, Apnea, High palate, Bilateral tonic-clonic seizure ... OMIM:617933
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Stroke, Autoimmune thrombocyto... ORPHA:3325
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delayed eruption of ... OMIM:612350
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Carious teeth, Osteolysis, Arthritis ORPHA:220393
Juvenile Polyposis Of Infancy
Intestinal bleeding, Broad thumb, Diarrhea, Broad phalanx of the toes, Cachexia, Rectal prolapse,... ORPHA:79076
Pontocerebellar Hypoplasia, Type 6
Gastroesophageal reflux, Failure to thrive, Seizure, Elbow contracture, Generalized-onset seizure... OMIM:611523
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Alexander Disease Type I
Vomiting, Failure to thrive, Seizure, Cachexia, Ataxia, Dysphagia, Palatal tremor ORPHA:363717
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Dysphagia, Apneic episodes precipitated by ill... OMIM:254210
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Atherosclerosis, Joint stiffness, Reduced subcutaneous ... ORPHA:1979
Folinic Acid-Responsive Seizures
Ataxia, Optic atrophy, Generalized myoclonic seizure, Seizure, Respiratory distress, Chorea, Apne... ORPHA:79097
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy, Recurrent fractures, Seizure ORPHA:2773
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonic seizure, Vomiting, Seizure, Apnea, Myoclonus, Ataxia, Increased serum pyruvate OMIM:618225
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Osteopenia, Decreased skull ossification, Decreased calvarial ossifica... OMIM:610915
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Joint ... ORPHA:2107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chronic constipation, Hepatomegaly, Optic disc pallor, Hypotriglyceridemia, Generalized non-motor... ORPHA:404454
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Failure to thrive, Cardiomyopathy, Seizure, Respiratory distress, Leukopenia,... OMIM:251000
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Seizure, Cerebral hemorrhage, Anemia, Purpura OMIM:614514
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Pontocerebellar Hypoplasia Type 2
Gastroesophageal reflux, Generalized myoclonic seizure, Oral-pharyngeal dysphagia, Upper limb hyp... ORPHA:2524
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Arthritis, Osteolysis ORPHA:324964
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... OMIM:601764
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
High, narrow palate, Increased variability in muscle fiber diameter, Seizure, Febrile seizure (wi... OMIM:612949
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Infantile Myofibromatosis
Limitation of joint mobility, Gingival fibromatosis, Bone cyst, Osteolysis ORPHA:2591
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Retrognathia, Malar flattening, Abnormal palate morphology, Joint hypermobility ORPHA:1390
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Seizure, Failure to thrive in infancy, Hip contracture, Cachexia, Constipation, Facia... OMIM:616801
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Tort... OMIM:620639
Char Syndrome
Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening, Triangular mouth, Ev... ORPHA:46627
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Hyposerinemia, Seizure, Apnea, Myoclonus OMIM:610992
Renpenning Syndrome
High, narrow palate, Skeletal muscle atrophy, Seizure, Decreased testicular size, Joint stiffness... ORPHA:3242
Temple-Baraitser Syndrome
Everted upper lip vermilion, Delayed eruption of teeth, Long philtrum, Gingival overgrowth, Open ... ORPHA:420561
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan... ORPHA:69087
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Elevated circulating alkaline phosphatase concentration, Taurodontia, Pulp calcific... OMIM:211900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Delayed eruption of teeth, Elevated circulating alkalin... OMIM:264700
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Elevated circulating long chain fatty acid concentration, Failure ... OMIM:214110
Brachydactyly, Type B1
Camptodactyly, Vertebral fusion, Joint contracture of the hand, Delayed eruption of permanent teeth OMIM:113000
Menkes Disease
Metaphyseal spurs, Seizure, Decreased circulating ceruloplasmin concentration, Epileptic spasm, J... OMIM:309400
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft palate ORPHA:1997
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Hepatomegaly, High palate, Macrovesicula... OMIM:608836
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Elbow flexion contracture, Hip contracture, Knee flexion contracture, Elevated circul... OMIM:616809
Aspergillosis
Hepatitis, Seizure, Osteomyelitis, Abnormal long bone morphology, Stroke, Eosinophilia, Abnormal ... ORPHA:1163
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Thick lower lip vermilion, Persistence of prim... OMIM:600002
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Vomiting, Seizure, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebra... ORPHA:90065
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Elevated circulating alkaline phosphatase concentratio... OMIM:606631
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Severe Neonatal-Onset Encephalopathy With Microcephaly
Gastroesophageal reflux, Seizure, Apnea, Bilateral tonic-clonic seizure, High palate ORPHA:209370
4H Leukodystrophy
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... OMIM:616354
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger, Open bite, Narrow mout... ORPHA:1327
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Delayed eruption of teeth OMIM:617105
Cherubism
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Joint stiffness, Cachexia ORPHA:1144
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy, Apneic episode... OMIM:605809
Congenital Neuronal Ceroid Lipofuscinosis
Vascular granular osmiophilic material deposition, Myoclonic seizure, Seizure, Apnea, Elevated ci... ORPHA:168486
Stuve-Wiedemann Syndrome 1
Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body, Broad isc... OMIM:601559
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Enamel hypoplasia, Widely spaced teeth OMIM:620193
Atypical Rett Syndrome
Small hand, Neonatal seizure, Impaired pain sensation, Limb myoclonus, Seizure, Abnormal pattern ... ORPHA:3095
Coffin-Siris Syndrome 3
Long philtrum, Delayed eruption of permanent teeth, Joint hypermobility, Thick vermilion border, ... OMIM:614608
Cleidocranial Dysplasia 2
Osteopenia, Hypoplasia of the maxilla, Delayed pubic bone ossification, Delayed eruption of prima... OMIM:620099
Glutamine Deficiency, Congenital
Seizure, Apnea, Hyperammonemia, Neonatal death, Hypoglutaminemia, Bradycardia, Camptodactyly, Fle... OMIM:610015
Isovaleric Acidemia
Bone marrow hypocellularity, Vomiting, Seizure, Pancytopenia, Leukopenia, Cerebellar hemorrhage, ... OMIM:243500
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Seizu... ORPHA:394
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Clubbing of toes, Gastroesophag... ORPHA:2198
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Diarrhea, Osteopenia, Rickets, Failure to thrive, Splenomegaly, Cirrho... OMIM:211600
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fa... OMIM:166600
Sneddon Syndrome
Seizure, Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension ORPHA:820
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ... ORPHA:2050
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Cachexia, Neutropenia, Abnormal blood ion concentration, Autoimmun... ORPHA:37042
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal epiphysis morphology, Abnormal tendon morphology, Congestive heart failur... ORPHA:579
Seizures, Benign Familial Infantile, 3
Apnea, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilater... OMIM:607745
Wilson Disease
Proximal muscle weakness in lower limbs, Bruising susceptibility, Hepatitis, Failure to thrive, P... ORPHA:905
Hypophosphatasia
Seizure, Failure to thrive in infancy, Hypercalcemia, Bowing of the long bones, Anemia, Craniosyn... ORPHA:436
Fibrodysplasia Ossificans Progressiva
Widely spaced teeth, Ectopic ossification in ligament tissue, Progressive cervical vertebral spin... OMIM:135100
X-Linked Creatine Transporter Deficiency
Seizure, Chorea, Ileus, Joint hypermobility, Aganglionic megacolon, Cachexia, Constipation, Abnor... ORPHA:52503
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... OMIM:619322
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Braddock-Carey Syndrome 1
Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u... OMIM:619980
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Carious teeth, Calvarial hyperostosis OMIM:612714
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Gastroesophageal reflux, Gait ataxia, Dysmetria, Central apnea, Bilateral tonic-clonic seizure, H... OMIM:615031
Papillon-Lefèvre Syndrome
Abnormality of the dentition, Periodontitis, Atrophy of alveolar ridges, Tooth agenesis, Prematur... ORPHA:678
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration OMIM:619073
Aids Wasting Syndrome
Cachexia, Weight loss, Skeletal muscle atrophy ORPHA:90081
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Small hand, Seizure, Obesity, Apnea, High palate, Wrist flexion contracture, Macroorchidism, Atax... OMIM:300055
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Advanced eruption of teeth, High palate, Mandibular prognathia OMIM:262190
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization ORPHA:494444
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Avascular ... OMIM:619377
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Osteopenia, Micrognathia, Malar flattening, Generalized joint hypermob... OMIM:613848
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Abnorma... OMIM:190350
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth OMIM:272300
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Somatic sensory dysfunction, Paresthesia, Stroke, Cerebral... ORPHA:324703
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Congenital hip dislocation, Skeletal muscle atrophy, Subdural hemorrhage, Overlapping fingers, Mu... OMIM:618291
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra... ORPHA:371428
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu... ORPHA:906
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Cachexia, Steatorrhea, Bone-marrow foam cells, Esophageal varix ORPHA:75233
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Stomatitis, Osteolysis, Fused cervical vertebrae OMIM:612852
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Apnea, Seizure, Neonatal death OMIM:615228
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Seizure, Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke... ORPHA:136
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Vomiting, Seizure, Dilatation of the cerebral ... ORPHA:284388
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Intestinal bleeding, Osteopenia, Bone marrow hypocellularity, Oral leukoplakia, Se... OMIM:612199
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters OMIM:226730
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypodontia, Carious teeth, Limb joint contracture OMIM:612079
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Apnea, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure OMIM:617290
Pseudohypoparathyroidism, Type Ia
Subcutaneous ossification, Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth OMIM:103580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Micrognathia, Narrow mouth, Acroosteolysis of distal phalanges (fee... ORPHA:90154
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Limited hip movement, Abnormally ossified vertebrae, Micrognathia, Laryngotracheom... ORPHA:93346
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... ORPHA:2063
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Small for gestational age, Seizure, Apnea, Hyperammonemia, Neutropenia, Dysphagia,... OMIM:618253
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture, Multiple enchondromatosis OMIM:614569
Developmental And Epileptic Encephalopathy 101
Gastroesophageal reflux, Third degree atrioventricular block, Seizure, Apnea, Myoclonus, Bradycar... OMIM:619814
Pachyonychia Congenita 2
Angular cheilitis, Natal tooth, Oral leukoplakia OMIM:167210
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Bruising suscep... ORPHA:99828
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Increased susceptibility to fractures, Joint hypermobility, High pa... OMIM:619752
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Reduced natural killer cell count, Secretory diarrh... OMIM:616050
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth, Cleft palate OMIM:617337
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Abnormal lymph node morphology, Bone pain, Chronic noninfectious lymphadenopathy, Nodular... ORPHA:319487
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Micrognathia, Natal tooth, Sagittal craniosynostosis OMIM:616901
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Coro... ORPHA:763
Methanol Poisoning
Diarrhea, Vomiting, Seizure, Inflammatory arteriopathy, Permanent atrial fibrillation, Hyperlipid... ORPHA:31825
Stuve-Wiedemann Syndrome 2
Stillbirth, Congestive heart failure, Respiratory distress, Neonatal death, Bowing of the long bo... OMIM:619751
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Broad thumb, Arteriovenous malformation, Skeletal muscle atrophy, Abnormal large i... ORPHA:109
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, High... OMIM:614607
Focal Facial Dermal Dysplasia Type Iv
Scarring, Intracranial hemorrhage, Focal-onset seizure, Cleft palate, Abnormal mast cell morphology ORPHA:398189
Intermediate Nemaline Myopathy
High, narrow palate, Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fib... ORPHA:171433
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Ataxia, Hepatomegaly, Jaundi... ORPHA:20
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Joint hypermobility, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Cockayne Syndrome Type 2
Widely spaced primary teeth, Hypoplasia of the primary teeth, Anodontia, Delayed eruption of prim... ORPHA:90322
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hyperesthesia, Small hand, Seizure, Elbow flexion contracture, Hip contracture, Knee flexion cont... ORPHA:371364
Mitochondrial Dna-Associated Leigh Syndrome
Episodic respiratory distress, Low plasma citrulline, Ataxia, Hepatomegaly, Dysphagia, Hypertroph... ORPHA:255210
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Brain Small Vessel Disease 2
Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Marshall-Smith Syndrome
Optic atrophy, Bruising susceptibility, Slender long bone, Failure to thrive, Increased susceptib... ORPHA:561
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... OMIM:185070
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio... ORPHA:2712
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Elevated circulating carcinoemb... ORPHA:100083
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Jejunitis, Microcytic anemia, Hyp... ORPHA:398063
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Seizure, Transient ischemic attack, Pseudopapilledema, Stroke, Ataxia, Intra... ORPHA:140989
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Cachexia, Weight loss, Jaundice, Hyperkalemia, Esoph... ORPHA:275761
Classic Hodgkin Lymphoma
Osteolysis ORPHA:391
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the upper limbs, Camptodactyly, Hypoplasia of teeth, Flexion contra... ORPHA:88630
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth OMIM:612462
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth, Delayed ossification of car... ORPHA:3010
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion ORPHA:457365
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Seizure, Decreased nerve conduction velocity, Elevated circulating creat... ORPHA:1933
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Abnormal bleeding, Seizure, Generalized-onset seizure, Increased susc... ORPHA:357058
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra... ORPHA:83468
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone density with cystic changes, Enamel hypoplasia, Increas... ORPHA:94089
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Bruising susceptibility, Optic nerve compression, Reduced bone min... ORPHA:667
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Seizure, Respiratory distress, Hepatosplenomegaly, Apnea, Pet... OMIM:608013
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Oligodontia, Jo... OMIM:619184
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum ORPHA:3214
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Bone pain, Fibula... OMIM:600081
Infantile Krabbe Disease
Hyperesthesia, Optic atrophy, Delayed brainstem auditory evoked response conduction time, Gastroe... ORPHA:206436
Desmoplastic Small Round Cell Tumor
Ileus, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal perito... ORPHA:83469
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Neuroblastoma
Abnormal bleeding, Increased circulating ferritin concentration, Pathologic fracture, Respiratory... ORPHA:635
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Neoplasm of the tongue, Osteolysis, Abnormal palate morphology ORPHA:100026
Dysosteosclerosis
Osteopenia, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Sclerosis of hand b... OMIM:224300
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Vomiting, Diarrhea, Leukocytosis, Anem... ORPHA:2070
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Osteomyelitis, Joint hypermo... ORPHA:2314
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation