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Gene: Alpl MGI:87983

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

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 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.

Human diseases associated with Alpl (3 diseases)
Human diseases predicted to be associated with Alpl (1634 diseases)

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

Disease	Matching phenotypes	Source
Hypophosphatasia, Adult	Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract...	OMIM:146300
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Low alkaline phosphatase, Craniosynostosis	OMIM:241510
Hypophosphatasia, Infantile	Apnea, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Hypercalcemia, Increa...	OMIM:241500

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

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis	ORPHA:71267
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Familial Expansile Osteolysis	Osteolysis, Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Prematu...	OMIM:174810
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene...	ORPHA:166277
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Joint hyperflexibility, Hip osteoarthritis, Hypodontia	ORPHA:63442
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition	ORPHA:2776
Hypophosphatasia, Adult	Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract...	OMIM:146300
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
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	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e...	OMIM:610967
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Xanthoma Disseminatum	Abnormal lip morphology, Osteolysis	ORPHA:158003
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Elevated alkaline phosphat...	ORPHA:73
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy...	OMIM:301014
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Gingival fibroma...	OMIM:228600
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Dentinogenesis im...	OMIM:619795
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	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	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Reduced bone mineral density	OMIM:619489
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Joint stiffness, Gingival fibromatosis, Osteolysis, Gingival ov...	ORPHA:2028
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Odontochondrodysplasia	Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent...	ORPHA:329475
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul...	OMIM:615198
Osteoporosis	Osteoporosis	OMIM:166710
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ...	ORPHA:668
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Rickets, Elevated circulating alkaline phosphatase co...	OMIM:193100
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia	OMIM:226700
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Low alkaline phosphatase, Craniosynostosis	OMIM:241510
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo...	ORPHA:137834
Weismann-Netter Syndrome	Calvarial hyperostosis, Delayed eruption of permanent teeth	OMIM:112350
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl...	OMIM:144750
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
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
Taurodontism	Taurodontia	OMIM:272700
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Elevated circulating alkaline phosp...	OMIM:126550
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Congenital Myopathy 14	Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El...	OMIM:618414
Hall-Riggs Syndrome	Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hypoplasia of the primary ...	OMIM:234250
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis	OMIM:612463
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Osteolysis, Downturned corne...	ORPHA:2774
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Malabsorption, Congenital ...	ORPHA:77297
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia	ORPHA:1816
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Craniosynostosis 3	Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno...	OMIM:615314
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Reduced bone mineral density, Abnormality of the dentition	ORPHA:2501
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Pierre-Ro...	OMIM:618363
Hypophosphatasia, Infantile	Apnea, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Hypercalcemia, Increa...	OMIM:241500
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Hutchinson-Gilford Progeria Syndrome	Malar flattening, Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Riboflavin Transporter Deficiency	Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Respiratory insuffici...	ORPHA:97229
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Osteoporos...	OMIM:606054
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration...	ORPHA:42
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Limitation of j...	ORPHA:157973
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration,...	OMIM:613312
Cerebral Cavernous Malformations	Intracranial hemorrhage, Seizure, Hepatic vascular malformations, Cerebral cavernous malformation	OMIM:116860
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene...	OMIM:610968
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b...	ORPHA:169805
Snakebite Envenomation	Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, Vomiting, Respiratory pa...	ORPHA:449285
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car...	ORPHA:3238
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Carious teeth, Wide anterior fon...	OMIM:269300
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia	ORPHA:251393
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Ataxia, Cachexia, Malabsorption, Gastrointestinal dysmotility, Rag...	OMIM:613662
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest...	ORPHA:52430
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracr...	ORPHA:85212
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Keratoderma Hereditarium Mutilans	Osteolysis, Cleft palate	ORPHA:494
Junctional Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, High palate, Long phi...	ORPHA:99329
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Diarrhea, Gait ataxia, Weight loss, Seizure, Vomiting, Status epi...	OMIM:612075
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Autosomal Dominant Hypophosphatemic Rickets	Elevated circulating alkaline phosphatase concentration, Osteomalacia, Rickets, Tooth abscess	ORPHA:89937
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul...	OMIM:602080
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Decreased muscle mass, Gastrointestinal dysmotility, R...	ORPHA:298
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High palate, Joi...	OMIM:147060
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion	OMIM:619692
Benign Familial Infantile Epilepsy	Apnea, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Generalized cloni...	ORPHA:306
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent fractures,...	ORPHA:93160
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl...	ORPHA:169802
Rosaï-Dorfman Disease	Osteolysis	ORPHA:158014
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Intestinal perforation, Osteolysis involving bones of the upper limbs, Bloody diarrhea, Intracran...	ORPHA:464321
Mu-Heavy Chain Disease	Osteoporosis, Osteolysis	ORPHA:100024
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia	OMIM:226670
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit...	OMIM:166200
Familial Cervical Artery Dissection	Abnormal circulating lipid concentration, Carotid artery dissection, Transient ischemic attack, F...	ORPHA:36382
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Ataxia, Myositis, Myocardi...	ORPHA:3452
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Abnormal vascular morphology, Intestinal perforation, Abnormal skel...	ORPHA:314652
2Q24 Microdeletion Syndrome	Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, ...	ORPHA:1617
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Hypomagnesemia, Diarrhea, Clubbing, Xerostomia, Hematochezia, Hamartomat...	OMIM:175500
Brittle Cornea Syndrome 1	Joint laxity, Dentinogenesis imperfecta	OMIM:229200
Aggressive Systemic Mastocytosis	Bone pain, Neutropenia, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosplenomegaly, Lymp...	ORPHA:98850
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Tapered finger, Malabsorption, Splenomegaly, Diarrh...	ORPHA:2930
Odontochondrodysplasia 1	Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Long philtrum, Den...	OMIM:184260
Benign Familial Neonatal Epilepsy	Apnea, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure,...	ORPHA:1949
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag...	ORPHA:98878
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteoglosphonic Dysplasia	Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnormal bone ossification	ORPHA:2645
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Apnea, Cardiac arrest, Bilateral tonic-clonic seizure, Focal motor seizure, Vomitin...	OMIM:618235
Myoclonus, Intractable, Neonatal	Optic disc pallor, Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Increased vari...	OMIM:617235
Christianson Syndrome	Decreased muscle mass, Generalized-onset seizure, Cachexia, Dysphagia, Gait ataxia, Joint hyperfl...	ORPHA:85278
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Split hand, Respiratory insufficiency, Vascular granular osmiophilic material depo...	OMIM:610127
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ...	ORPHA:331
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Clubbing, Bronchi...	ORPHA:60033
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red...	OMIM:614856
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:600785
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic disc pallor, Skeletal muscle atrophy, Ataxia, Apnea, Optic atrophy, Respiratory insufficien...	OMIM:618228
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia	OMIM:614450
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Chronic pulmonary obstruction...	ORPHA:1163
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros...	OMIM:218400
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, Flexion contracture,...	OMIM:618186
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the dentition, Osteoarthritis, Osteolysis, Oligodontia	ORPHA:1657
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Ataxia, Apnea, Optic atrophy, Respiratory insufficiency, Seizure, Vomiting, Dysphag...	OMIM:618226
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Osteoarthritis, Tooth agenesis, Microdontia	ORPHA:633
Mirage Syndrome	Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspiration pneumonia, Achalasia, Hy...	OMIM:617053
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Cough, Ecchymosis, Abnormal bleeding, Hepatosplen...	ORPHA:464329
Sneddon Syndrome	Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Seizure, Ischemic stroke, Stroke...	OMIM:182410
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Wei...	ORPHA:3226
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholan...	ORPHA:3260
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteo...	ORPHA:53
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp...	OMIM:616507
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Failure to thrive, Pancytopenia, Femur fracture, Facial palsy, Increased bone miner...	OMIM:259700
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Radioulnar synostosis, Hypodontia, Malar flatten...	OMIM:212780
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Oslam Syndrome	Carious teeth, Radioulnar synostosis	ORPHA:2760
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Malar flattenin...	OMIM:614592
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentra...	OMIM:618886
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren...	ORPHA:436
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia	OMIM:211900
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy, Seizure, Failure to thrive, Flexion contracture	ORPHA:500545
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation, Seizure, Myoclonus, Arthrogryp...	ORPHA:166063
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrogna...	OMIM:619269
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventricular hyp...	OMIM:619048
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Recurrent fractures	ORPHA:417
Benign Familial Neonatal-Infantile Seizures	Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neon...	ORPHA:140927
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Ataxia, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizure, Status ...	ORPHA:71277
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Thick lower lip vermilion, Wi...	OMIM:619797
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Abnormal zygomatic bone morphology, Fibrous dysplasia of the bone...	ORPHA:249
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Hepatomegaly, Increased bone mineral density, Facial palsy, R...	OMIM:611490
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase	OMIM:618879
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, High, narrow palate, Flexion ...	ORPHA:171433
Heparin-Induced Thrombocytopenia	Myocardial infarction, Pulmonary embolism, Autoimmune thrombocytopenia, Abnormal onset of bleedin...	ORPHA:3325
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea, Optic atrophy, Seizure, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Joubert Syndrome 33	Splenomegaly, Syndactyly, Ataxia, Apnea	OMIM:617767
48,Xxyy Syndrome	Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Apnea, Cryptorchidism, Asthma, Obesit...	ORPHA:10
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Osteopenia, Telangiectasia of the skin, Camptodactyly ...	ORPHA:2176
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu...	OMIM:253250
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Split h...	ORPHA:168486
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Ravine Syndrome	Ataxia, Apnea, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive	ORPHA:99852
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Recurrent fractures, Bone pain, Abnormal neck blood vessel...	ORPHA:319487
Developmental And Epileptic Encephalopathy 99	Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur...	OMIM:619606
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Developmental And Epileptic Encephalopathy 61	Apnea, Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Seizure, High palate, Foca...	OMIM:617933
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Bone pain, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis,...	ORPHA:98849
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Bile Acid Conjugation Defect 1	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:619232
Monosomy 5P	Finger syndactyly, Inguinal hernia, Recurrent fractures, Small hand, Joint hyperflexibility, High...	ORPHA:281
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Apnea, Ataxia, Myoclonic seizure, Seizure, Vomiting, Myoclonus	OMIM:618225
Severe Neonatal-Onset Encephalopathy With Microcephaly	Apnea, Bilateral tonic-clonic seizure, Respiratory insufficiency, Seizure, High palate, Gastroeso...	ORPHA:209370
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Limited elbow movement, Micrognathia, Joint stiffness, Flexio...	OMIM:614008
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Bo...	OMIM:230800
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Multifocal seizures, Apnea, Focal motor status epilepticus, Focal-onset seizure,...	OMIM:614498
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Cerebral hemorrhage, Pulmonary embolism, Seizure, Anemia, Purpura	OMIM:614514
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f...	OMIM:608836
Spinocerebellar Ataxia 48	Ataxia, Bilateral tonic-clonic seizure, Cachexia, Chorea, Dysmetria, Gait ataxia, Dysphagia	OMIM:618093
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Gait ataxia, Short foot,...	OMIM:312750
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth...	ORPHA:1133
Pontocerebellar Hypoplasia, Type 6	Generalized-onset seizure, Apnea, Elbow contracture, Narrow palate, Seizure, Gastroesophageal ref...	OMIM:611523
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl...	OMIM:273800
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated ...	OMIM:211600
Seizures, Benign Familial Infantile, 1	Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se...	OMIM:601764
Phosphoserine Aminotransferase Deficiency	Apnea, Hypoglycinemia, Hyposerinemia, Seizure, Myoclonus	OMIM:610992
Ollier Disease	Osteolysis, Joint stiffness	ORPHA:296
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Ataxia, Clonic seizure, Chorea, Optic atrophy, Seizure, Status epile...	ORPHA:79097
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Respiratory...	OMIM:613869
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness	ORPHA:1216
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R...	OMIM:277440
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Flynn-Aird Syndrome	Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Joint stiffness, Bone cyst, S...	ORPHA:2047
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Seizure, Recurrent fractures	OMIM:619884
Mucopolysaccharidosis Type 1	Inguinal hernia, Sinusitis, Apnea, Abnormality of the tonsils, Malabsorption, Cough, Congestive h...	ORPHA:579
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia	OMIM:612843
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Generalized-onset seizure, Jejunal atresia, Apnea, Febrile status epilepticus, Tapered finger, To...	OMIM:612949
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Elevat...	ORPHA:2070
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Dental malocclusion...	OMIM:612350
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial o...	OMIM:610915
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal neck blood vessel morphology...	ORPHA:97290
Pontocerebellar Hypoplasia Type 2	Apnea, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, Oral-pharyn...	ORPHA:2524
Juvenile Polyposis Of Infancy	High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Protein-losin...	ORPHA:79076
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Neutr...	OMIM:618253
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Joint stiffness, Flexi...	ORPHA:1979
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Seizure, Optic atrophy, Recurrent fractures	ORPHA:2773
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis	ORPHA:324964
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture...	OMIM:619377
Alexander Disease Type I	Ataxia, Cachexia, Seizure, Vomiting, Dysphagia, Palatal tremor, Failure to thrive	ORPHA:363717
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Reduced bone mineral densit...	ORPHA:404454
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Char Syndrome	Persistence of primary teeth, No permanent dentition, Symphalangism of the 5th finger, Thick verm...	ORPHA:46627
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re...	ORPHA:93941
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Apnea, Metatarsus adductus, Cry...	OMIM:214110
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Respiratory insufficiency, ...	OMIM:617290
Glutamine Deficiency, Congenital	Hypoglutaminemia, Neonatal respiratory distress, Apnea, Flexion contracture, Hyperammonemia, Seiz...	OMIM:610015
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron defici...	ORPHA:37042
Infantile Myofibromatosis	Gingival fibromatosis, Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Diar...	ORPHA:99828
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Bowel incontinence, Cachexia, Joint stiffness, Optic atroph...	ORPHA:702
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Tapered fi...	OMIM:616801
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ...	OMIM:264700
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin...	OMIM:606631
Immunodeficiency 27A	Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Diarrhea, ...	OMIM:209950
Idiopathic Achalasia	Wheezing, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Decreased prealbumin level, Rec...	ORPHA:930
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ...	ORPHA:50251
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Seizures, Benign Familial Infantile, 3	Focal impaired awareness seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Bilater...	OMIM:607745
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Cleft pal...	ORPHA:141152
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi...	OMIM:616354
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia, Joint stiffness, Abnormal thumb morphology, High, narrow palat...	ORPHA:3242
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Joint hyperflexibility, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Menkes Disease	Joint laxity, Epileptic spasm, Decreased circulating ceruloplasmin concentration, Metaphyseal spu...	OMIM:309400
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Brachydactyly, Type B1	Joint contracture of the hand, Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly	OMIM:113000
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Pulmonary embolis...	ORPHA:394
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt...	ORPHA:77259
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Respiratory insufficiency	OMIM:215550
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Gastroesophageal reflux, H...	OMIM:615031
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Osteoporosis, Elbow ...	OMIM:214150
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Leukopenia, Seizure, Vomiting, Bone marrow hypocellularity, ...	OMIM:243500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Seizure, Apnea	OMIM:615228
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Elevated circul...	OMIM:616809
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Stuve-Wiedemann Syndrome 1	Apnea, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short...	OMIM:601559
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia...	OMIM:251000
Osteopetrosis, Autosomal Dominant 2	Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, General...	OMIM:166600
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Cachexia, Joint stiffness	ORPHA:1144
Eiken Syndrome	Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio...	OMIM:600002
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Respiratory failure, Respiratory insufficiency, Tonic seizure	OMIM:611722
Fibrodysplasia Ossificans Progressiva	Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif...	OMIM:135100
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental...	ORPHA:1327
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De...	OMIM:620099
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Thro...	OMIM:612199
Coffin-Siris Syndrome 3	Joint laxity, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick ...	OMIM:614608
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Ataxia, Apnea, Facial hypotonia, Flexion contracture, Small hand, Obesity, Choreoathetosis, Seizu...	OMIM:300055
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating alkaline phosphatase concentration	OMIM:619073
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, ...	OMIM:618291
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Elevated circulating alkaline p...	OMIM:307800
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Bone pain, Increased body weight, Hepatit...	ORPHA:905
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:615368
Refractory Celiac Disease	Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase...	ORPHA:398063
Sneddon Syndrome	Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension, Seizure	ORPHA:820
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Weight loss, Elevated carcinoem...	ORPHA:100083
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Abnormality of the dentition, Osteolysis, Osteolytic defects of the distal phalange...	ORPHA:90154
Papillon-Lefèvre Syndrome	Severe periodontitis, Premature loss of primary teeth, Abnormality of the dentition, Osteolysis, ...	ORPHA:678
Aarskog-Scott Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Hypoplasia of the maxilla, A...	ORPHA:915
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Respiratory insufficiency, Knee flexion contracture, Distal arthrogryposis, Dysphagia, Cam...	OMIM:618198
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Aneurysm, Intracranial Berry, 2	Cerebral berry aneurysm, Subarachnoid hemorrhage	OMIM:608542
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Ile...	ORPHA:52503
Pulmonary Blastoma	Weight loss, Dyspnea, Recurrent pneumonia, Cough	ORPHA:64741
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Distal sensory impairment, Lim...	ORPHA:36386
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Abetal34V Amyloidosis	Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ...	ORPHA:324703
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia	ORPHA:75233
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Leukopenia, Vomiting, Nausea, Hepatomegaly, Delayed skeletal maturation,...	OMIM:222700
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ...	OMIM:185070
Developmental And Epileptic Encephalopathy 101	Apnea, Limb joint contracture, Seizure, Gastroesophageal reflux, Third degree atrioventricular bl...	OMIM:619814
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i...	ORPHA:371428
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myo...	OMIM:600721
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Optic nerve...	ORPHA:667
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alv...	OMIM:616050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Stomatitis	OMIM:612852
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Limb joint contracture, Hypodontia	OMIM:612079
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare...	OMIM:615349
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Infantile spasms, Cryptorchidism, Jaundice, Flexion contracture, Respiratory insufficiency...	OMIM:608093
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Micrognathia, Generalized joint laxity, Decreased calvarial ossificatio...	OMIM:613848
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Pathologic fracture	OMIM:614569
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum...	ORPHA:2257
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Osteopenia, Calvarial hyperostosis	OMIM:612714
Cole-Carpenter Syndrome	Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ...	ORPHA:2050
Lysosomal Acid Lipase Deficiency	Precocious atherosclerosis, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated ...	ORPHA:275761
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis	OMIM:103580
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c...	ORPHA:206436
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Dysmetria, Gait ataxia, Seizure, Hypomimic face	ORPHA:320385
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Infantile spasms, Impaired pain sensation, Small hand,...	ORPHA:3095
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Multiple prenata...	OMIM:616867
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Marshall-Smith Syndrome	Bowing of the long bones, Failure to thrive, Craniosynostosis, Protruding tongue, Accelerated ske...	ORPHA:561
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Abnormal large intestine morpholo...	ORPHA:109
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi...	OMIM:614607
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Congestive heart failure, Dysphagia, Short long b...	OMIM:619751
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Respiratory insufficiency, Seizure, Gastroesophageal reflux, Myoc...	OMIM:300673
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Transient ischemic attack, Ataxia, Intracranial hemorrhage, Seizure, Pseudop...	ORPHA:140989
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Tachypnea, Leukopenia, Hepatomegaly, Ataxia, Leukocytosis, Dilated cardiomyopathy, Seizure...	ORPHA:20
Menkes Disease	Venous insufficiency, Chorea, Intracranial hemorrhage, Hernia, Osteoporosis, Seizure, Joint hyper...	ORPHA:565
Focal Facial Dermal Dysplasia Type Iv	Scarring, Focal-onset seizure, Cleft palate, Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper...	ORPHA:35909
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Pycnodysostosis	Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima...	ORPHA:763
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Cachexia, Elbow flexion contracture, Small hand, Knee flexion co...	ORPHA:371364
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Bone pain, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramu...	ORPHA:79
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M...	OMIM:224300
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Brain Small Vessel Disease 2	Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure	OMIM:614483
Leukodystrophy, Hypomyelinating, 4	Choreoathetosis, Seizure, Flexion contracture, Apnea	OMIM:612233
Mitochondrial Complex I Deficiency, Nuclear Type 10	Ataxia, Apnea, Central hypoventilation, Optic atrophy, Dysmetria, Seizure, Respiratory failure, D...	OMIM:618233
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Chorea, Low plasma citrulline, Ragged-red muscle fibers, Gait ataxia, Hyperventilation, He...	ORPHA:255210
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Flexion contracture, Widely spaced prim...	ORPHA:90322
Solitary Bone Cyst	Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, De...	ORPHA:1933
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Apneic episodes precipitated by illness, fat...	OMIM:312170
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Bilateral tonic-clonic seizure, Seizur...	ORPHA:79264
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, An...	OMIM:608013
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615923
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis	OMIM:612462
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph...	OMIM:190350
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste...	ORPHA:88630
Qazi-Markouizos Syndrome	High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal bones, Open mouth, Broad...	ORPHA:3010
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos...	ORPHA:93346
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ...	OMIM:619322
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo...	OMIM:619897
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, Pierre-Robin seque...	OMIM:619184
Gamma-Heavy Chain Disease	Neoplasm of the tongue, Rheumatoid arthritis, Osteolysis, Abnormal palate morphology	ORPHA:100026
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating alkaline phosphatase con...	OMIM:620366
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi...	ORPHA:99147
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Bilateral tonic-clonic seizure, Epistaxis, Intracranial hemorrhage, Hyperten...	ORPHA:369929
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Flexion contracture, Limitation of joint mobility, Osteolysis, High...	ORPHA:90153
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ...	OMIM:227500
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Classic Hodgkin Lymphoma	Osteolysis	ORPHA:391
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Flexion contracture, Long philtrum	ORPHA:263463
Codas Syndrome	Delayed eruption of teeth, Joint hyperflexibility, Abnormal dental morphology, Abnormal dental en...	ORPHA:1458
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Snijders Blok-Campeau Syndrome	Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia	OMIM:618205
Felty Syndrome	Sinusitis, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis	ORPHA:47612
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Necrotizing Enterocolitis	Shock, Hyponatremia, Apnea, Small for gestational age, Diarrhea, Peritonitis, Leukocytosis, Blood...	ORPHA:391673
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss...	OMIM:166210
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Inguinal hernia, Congenital hip dislocation, Ataxia, Generalized-onset seizure...	ORPHA:357058
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery...	ORPHA:324636
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Apnea, Optic atrophy, Seizure, Dysphagia, Limb hypertonia	OMIM:619527
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Cerebral Cavernous Malformations 2	Cerebral hemorrhage, Telangiectasia, Seizure, Stroke, Cerebral cavernous malformation	OMIM:603284
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Coxa vara, Hi...	ORPHA:800
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hip dislocation,...	OMIM:314580
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Bone cyst, Seizure, Myoclonus, Pathologic fracture	OMIM:618193
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, H...	ORPHA:1299
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Alg6-Cdg	Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of ...	ORPHA:79320
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, Myoclonus, Dysphagia	ORPHA:324708
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Osteopenia, Inguinal hernia, Short femur, Hyperparathyroidism, Metaphyseal ...	OMIM:618188
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Recurrent fractures	OMIM:620368
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Angina pectoris, Epistaxis, Portal hype...	ORPHA:729
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Dyspnea, Splenomegaly, Tachypnea, P...	OMIM:239200
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Ataxia, Malabsorption, Joint stiffness, Abnormal mese...	ORPHA:3463
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe...	ORPHA:17
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia	ORPHA:517
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R...	ORPHA:1452
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Prolonged bleeding following procedure, Hypoglycemic seizures, Inflammation of the la...	ORPHA:79259
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Abnormal thumb morphology, Patent ductus arteriosus, Diarrhe...	ORPHA:1842
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Grange Syndrome	Aortic regurgitation, Syndactyly, Patent ductus arteriosus, Arterial stenosis, Increased suscepti...	ORPHA:79094
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Optic atrophy, Osteoporosis,...	ORPHA:2801
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Apnea, Bradycardia, Respiratory failure	OMIM:616277
Ring Chromosome 10 Syndrome	Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Seizure, Hypocalcemia	ORPHA:1438
Periventricular Nodular Heterotopia 1	Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Seizure, Stroke, Short finger, Clinoda...	OMIM:300049
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Acute Promyelocytic Leukemia	Bone pain, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Leukocytosis, Lymphadenopathy,...	ORPHA:520
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, Lymphadenopathy, Hyperte...	ORPHA:69077
Pulmonary Arteriovenous Malformation	Liver abscess, Myocardial infarction, Iron deficiency anemia, Gastrointestinal infarctions, Cough...	ORPHA:2038
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Cor...	ORPHA:313855
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse...	OMIM:112250
Stüve-Wiedemann Syndrome	Respiratory distress, Osteopenia, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ...	ORPHA:3206
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Oral-pharyngeal dysphagia, Chorea, Gastrointestinal dysmotility, Cho...	ORPHA:2131
Biotinidase Deficiency	Hepatomegaly, Apnea, Ataxia, Splenomegaly, Diarrhea, Tachypnea, Optic atrophy, Hyperammonemia, Se...	OMIM:253260
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, Seizure, Hypocalcem...	OMIM:602361
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodacty...	OMIM:271225
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Takayasu Arteritis	Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Weight loss, Anemia, H...	ORPHA:3287
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Failure to thrive, Apnea, Seizure	OMIM:614883
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Dysphagia, Weight loss, Increased susceptibility to fractures, Seizure, Aspira...	ORPHA:216866
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Congenital hip dislocation, Ataxia, Sudden episodic apnea, Intermittent episodes of...	ORPHA:98914
Congenital Myasthenic Syndrome	Joint laxity, Congenital hip dislocation, Ataxia, Sudden episodic apnea, Intermittent episodes of...	ORPHA:590
Mycetoma	Prominent superficial veins, Osteomyelitis, Abnormality of the lymphatic system, Bone cyst, Osteo...	ORPHA:2583
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Abnormal circulatin...	OMIM:241530
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Intraalveolar phospholipid ac...	OMIM:265120
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Seizure, Arteriovenous malform...	ORPHA:624
Moynahan Syndrome	Seizure, Cachexia	ORPHA:2574
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failure, Cranial nerve compression, ...	ORPHA:94080
Tyrosinemia Type 1	Acute hepatic failure, Rickets of the lower limbs	ORPHA:882
Dural Sinus Malformation	Papilledema, Somatic sensory dysfunction, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, C...	ORPHA:97339
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Congenital Myopathy 11	Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Abnormal cir...	OMIM:619967
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Apnea, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atro...	ORPHA:395
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Elevated circulating deoxyuridine concentration, Gastroparesis, Intestinal p...	OMIM:603041
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Stridor, Anemia, Seizure, Gastroe...	OMIM:230900
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Osteolytic defects of the pha...	ORPHA:2484
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Combined Oxidative Phosphorylation Deficiency 57	Apnea, Central hypoventilation, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sm...	OMIM:620167
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Vomiting, Cough, Ecchymosis, Nausea, Internal hemo...	ORPHA:340
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine...	ORPHA:99901
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, Obesi...	ORPHA:3409
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Jaundice, Osteolysis, Pathologic fracture, Joint contracture of the hand	OMIM:263700
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica...	ORPHA:2563
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Abeta Amyloidosis, Italian Type	Seizure, Stroke, Cerebral hemorrhage	ORPHA:324713
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Acquired Purpura Fulminans	Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ...	ORPHA:49566
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79410
Hyperekplexia 3	Apnea, Bilateral tonic-clonic seizure, Hiatus hernia, Syncope, Gastroesophageal reflux, Myoclonus...	OMIM:614618
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Seizure, Joint ...	ORPHA:2324
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase	OMIM:162830
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures	OMIM:616833
Tarp Syndrome	Meckel diverticulum, Failure to thrive, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of ...	OMIM:311900
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi...	ORPHA:3078
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Inguinal hernia, Ataxia, Apnea, Portal hypertension, Congenital hepatic fibrosis, P...	ORPHA:1454
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Vomiting, Cough	ORPHA:137935
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth	OMIM:619769
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Tenorio Syndrome	Osteopenia, Joint laxity, Apnea, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Seizure, ...	OMIM:616260
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Seizure, Dysphagia, Hypoplastic spleen, Adducted thumb	ORPHA:89844
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp...	OMIM:170390
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem...	ORPHA:335
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ...	OMIM:145420
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Respiratory insufficiency, Weight loss, L...	ORPHA:26790
H Syndrome	Hallux valgus, Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Malabsorption, Microcyti...	ORPHA:168569
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Delayed skeleta...	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Diarrhea, Elevated circulating creatini...	OMIM:608104
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Nemaline bodies, Abnormality ...	OMIM:620278
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone	OMIM:615422
Chromomycosis	Ankylosis, Osteolysis, Abnormal oral cavity morphology	ORPHA:182
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Osteoporosis, Micrognathia	ORPHA:73272
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ...	ORPHA:171430
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Osteogenesis Imperfecta	Osteopenia, Abnormal tibia morphology, Flexion contracture, Bone pain, Abnormal femur morphology,...	ORPHA:666
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation, Chronic constipation, Respiratory failure, Episodic hypertension,...	OMIM:619483
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chori...	OMIM:277175
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Cerebral hemorrhage, Focal motor seizure, Seizure, Stroke	ORPHA:542310
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis,...	OMIM:619718
Cerebral Cavernous Malformations 3	Seizure, Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malo...	OMIM:619293
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased...	OMIM:616829
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia	OMIM:617802
Alveolar Echinococcosis	Liver abscess, Cholangitis, Vomiting, Cough, Ataxia, Portal hypertension, Abnormal mesentery morp...	ORPHA:284
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Bone pain, Che...	ORPHA:355
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Epiphysea...	ORPHA:950
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Diar...	OMIM:607765
Myasthenic Syndrome, Congenital, 16	High palate, Apnea	OMIM:614198
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Narrow mouth, Enamel hypoplasia, Flexion contracture, Oral mucosal blisters	OMIM:226600
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ...	OMIM:300845
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Brain abscess, Bowel incontinence, Congestive heart failure,...	OMIM:616482
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cac...	ORPHA:85293
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Venous insufficiency, Congestive heart failure, Reduced bone mineral density...	ORPHA:137608
Developmental And Epileptic Encephalopathy 90	Bilateral tonic-clonic seizure, Focal-onset seizure, Apneic episodes in infancy, Constipation, Fo...	OMIM:301058
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis	ORPHA:529665
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Hepatomegaly, Apnea, ...	ORPHA:79330
Joubert Syndrome 9	Seizure, Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion cont...	OMIM:259450
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicular a...	OMIM:608612
Fatal Familial Insomnia	Apnea, Ataxia, Weight loss, Constipation, Abnormal autonomic nervous system physiology, Myoclonus...	OMIM:600072
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth...	ORPHA:2769
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Ecchymosis, Papilledema, Bilateral tonic-clonic seiz...	ORPHA:2072
Xp21 Deletion Syndrome	Joint laxity, Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase c...	ORPHA:261476
Joubert Syndrome 30	Seizure, Postaxial hand polydactyly, Tachypnea, Apnea	OMIM:617622
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Limitation of joint mobility, Cardio...	ORPHA:79327
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Marshall-Smith Syndrome	Apnea, Large sternal ossification centers, Accelerated skeletal maturation, Bilateral cryptorchid...	OMIM:602535
Scarf Syndrome	Craniosynostosis, Joint hyperflexibility, Long philtrum, Enamel hypoplasia, Hypocalcification of ...	ORPHA:3134
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti...	OMIM:277450
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Tracheobronc...	OMIM:610253
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Calcinosis, Telangiectas...	ORPHA:2909
Mucopolysaccharidosis Type 3	Adenoiditis, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Aspiratio...	ORPHA:581
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac...	ORPHA:1302
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Abnormal blee...	ORPHA:77293
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Cle...	OMIM:607812
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Diarrhea, Hyperlipidemia, Vomiting, Protein-losing enteropathy, Hypoalbuminemia,...	OMIM:615863
Shprintzen-Goldberg Syndrome	Osteopenia, Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, A...	ORPHA:2462
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Overlapping toe, Apnea, Flexion contracture, Elbow flexion contrac...	OMIM:617301
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Micrognathia, Absent frontal sinuses, Open bite, Abnormality of ...	ORPHA:955
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Tracheoesophageal fistula, St...	ORPHA:142
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Subarachnoid hemor...	OMIM:243700
Hypergonadotropic Hypogonadism-Cataract Syndrome	Recurrent fractures, Increased circulating gonadotropin level, Delayed skeletal maturation, Osteo...	ORPHA:2410
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Gastroesophageal reflux, A...	ORPHA:562
Lowry-Maclean Syndrome	Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Hepatomegaly, Split hand, ...	OMIM:252500
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Mcdonough Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress...	ORPHA:652
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvaria...	ORPHA:93324
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ...	ORPHA:507
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis le...	OMIM:256810
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Respiratory insufficiency, Seizure, Joint contracture, Myoclonus, Hypertrophic cardiomyopathy	OMIM:614462
Ohdo Syndrome	Joint laxity, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narr...	OMIM:249620
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim...	OMIM:614162
Osteopathia Striata With Cranial Sclerosis	Apnea, Osteopathia striata, Craniofacial osteosclerosis, Gastroesophageal reflux, High palate, Cl...	OMIM:300373
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnormal fing...	ORPHA:536471
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Mala...	ORPHA:47
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Apnea, Optic nerve hypoplasia, Joint stiffness, Flexion cont...	OMIM:609069
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Generalized-onset seizure, Apnea, Rocker bottom foot, Postaxial polydactyly, Long fingers, Optic ...	OMIM:617527
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing	OMIM:615066
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Pulp calcification, Microdontia, Distal foot symphalangism, Distal symphalangis...	OMIM:606895
Glycosylphosphatidylinositol Biosynthesis Defect 11	Macroglossia, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion...	OMIM:616025
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Protruding tong...	OMIM:259775
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abno...	ORPHA:91387
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, E...	ORPHA:289176
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Apnea, Optic neuropathy, Bilate...	OMIM:252010
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Micrognathia, Knee flexion contracture, Elevated circulating alkalin...	OMIM:156400
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph...	ORPHA:2494
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Stridor, Dysphagia, Arthrogryposis...	OMIM:617143
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Hepatomegaly, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy,...	OMIM:602579
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit...	ORPHA:314655
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Multiple pan...	ORPHA:79644
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing...	OMIM:259600
Poems Syndrome	Sclerosis of hand bone, Papilledema, Lipodystrophy, Thrombocytosis, Sclerosis of foot bone, Metap...	ORPHA:2905
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Osteopenia, Multiple joint contractures, Metaphyseal widening, High palate,...	ORPHA:536467
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Spinal arteriovenous...	ORPHA:90307
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Failure to thrive, ...	ORPHA:33355
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, High palate, Hernia, Spina bifida occulta, Wrist flexion contracture, N...	OMIM:193700
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Rin2 Syndrome	Cryptorchidism, Aortic aneurysm, Increased susceptibility to fractures, High palate, Umbilical he...	ORPHA:217335
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Apnea, Rocker bottom foot, Long fingers, Postaxial hand ...	ORPHA:521426
Pseudo-Torch Syndrome 2	Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Thrombocytopenia, Patent ...	OMIM:617397
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Osteolysis, Cleft ...	ORPHA:3474
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal...	ORPHA:71493
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti...	ORPHA:79282
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro...	OMIM:272430
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Stiff interphalangeal joints, Hepatomegaly, Portal hypertension, Osteoporo...	ORPHA:465508
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tac...	OMIM:611560
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Silver-Russell Syndrome	Decreased muscle mass, Sandal gap, Failure to thrive in infancy, Cachexia, Cryptorchidism, Delaye...	ORPHA:813
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Seizure, Apneic episodes in infancy, Dysphagia, Meckel diverticulum	ORPHA:163961
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Prolonged bleeding time, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous...	ORPHA:1901
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido...	OMIM:608800
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Apnea, Acute hepatic steatosis, Seizure, Vomiting, Failure to thrive	OMIM:210200
Hepatoerythropoietic Porphyria	Osteopenia, Abnormal circulating enzyme concentration or activity, Erythrodontia, Osteoporosis, O...	ORPHA:95159
Congenital Insensitivity To Pain With Severe Intellectual Disability	Pain insensitivity, Osteomyelitis, Small for gestational age, Rocker bottom foot, Bilateral tonic...	ORPHA:453510
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Diaphragmatic eventration, Spinal muscular atrophy, Multiple prena...	OMIM:616866
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Osteopenia, Joint laxity, Abnormal circulating enzyme concentration or act...	ORPHA:309282
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Vomiting, Protein-losin...	ORPHA:79319
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne...	ORPHA:348
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Ataxia, Cachexia, Chorea, Upper-limb joint contracture, Lower-limb joint...	ORPHA:300605
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Tarp Syndrome	Finger syndactyly, Failure to thrive, Extramedullary hematopoiesis, Apnea, Rocker bottom foot, Po...	ORPHA:2886
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Epileptic spasm, Lipodystrophy, Ataxia, Arachnodactyly, Gene...	ORPHA:86309
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Knee...	OMIM:609220
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Celiac disease, Diarrhea, Osteoporosis, Rickets, Weight loss, Iron def...	OMIM:212750
Superficial Siderosis	Abnormal bleeding, Ataxia, Lower limb muscle weakness, Subarachnoid hemorrhage, Impaired temperat...	ORPHA:247245
Joubert Syndrome 23	Tachypnea, Polydactyly, Apnea	OMIM:616490
Glass Syndrome	Inguinal hernia, Apnea, Arachnodactyly, Anterior tibial bowing, Bilateral tonic-clonic seizure, F...	OMIM:612313
Gm1 Gangliosidosis	Gastroesophageal reflux, Aspiration pneumonia, Cherry red spot of the macula, Ataxia, Bilateral t...	ORPHA:354
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated creatine kinase after exercise, Sudden episodic apnea, Elevated circulatin...	ORPHA:159
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Delayed ske...	OMIM:618440
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Vomiting, Gastroesophageal reflu...	ORPHA:85450
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired pro...	ORPHA:14
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Epileptic spasm, Ataxia, Apnea, Bilateral tonic-clonic seizure, Protruding tongue, Tonic seizure,...	OMIM:619580
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Respiratory insuffi...	ORPHA:2771
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy...	OMIM:114290
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain...	ORPHA:29073
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, Vomiting, Gastroesophageal reflux, High pala...	OMIM:613658
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Prader-Willi Syndrome	Osteopenia, Gastroparesis, Decreased response to growth hormone stimulation test, Impaired temper...	ORPHA:739
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Diarrhea, Clubbing, Iron...	OMIM:226300
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, High palate, Neutropenia, Short phala...	ORPHA:221016
Immunodeficiency 49	Natal tooth, Short philtrum, Micrognathia	OMIM:617237
Hypoadrenocorticism, Familial	Hyponatremia, Apnea, Hyperkalemia, Seizure, Vomiting	OMIM:240200
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Osteogenesis Imperfecta, Type Vii	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, L...	OMIM:610682
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Prolonged bleeding time, Bowing of the long bones, Osteopenia, Small for gesta...	OMIM:616229
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Hypertension, Apneic ...	OMIM:619111
Hyperekplexia 1	Inguinal hernia, Apnea, Hip dislocation, Aspiration, Seizure, Myoclonus, Umbilical hernia, Noctur...	OMIM:149400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Hyperlipidemia, Pituitary adenoma, Osteoporosis, Increased body weight, Pr...	ORPHA:189427
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Cleft palate, Increased susceptibi...	ORPHA:90354
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Genitopatellar Syndrome	Hip contracture, Apnea, Hypoplastic ilia, Cryptorchidism, Patellar aplasia, Knee flexion contract...	ORPHA:85201
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Wheezing, Recurrent tonsillitis, Hyper...	ORPHA:171876
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures, Intrinsic hand muscle atrophy, Dysphagia	OMIM:304700
Greenberg Dysplasia	Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi...	OMIM:215140
Orofaciodigital Syndrome Type 6	Mesoaxial polydactyly, Syndactyly, Failure to thrive, Ataxia, Apnea, Episodic tachypnea, Hamartom...	ORPHA:2754
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis	ORPHA:42642
Hamamy Syndrome	Osteopenia, Thin upper lip vermilion, Recurrent fractures, Craniosynostosis, Micrognathia, Dental...	OMIM:611174
Thymic Neuroendocrine Tumor	Osteopenia, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, ...	ORPHA:97289
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Abnormal dental enamel morphology, Craniosynostosis, Hypercalcemia, Recurrent...	ORPHA:251004
Infantile Neuroaxonal Dystrophy	Ataxia, Flexion contracture, Optic atrophy, Seizure, Apneic episodes in infancy, Constipation, Ab...	ORPHA:35069
Joubert Syndrome	Aganglionic megacolon, Ataxia, Apnea, Episodic tachypnea, Seizure, Hand polydactyly, Foot polydac...	ORPHA:475
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb...	ORPHA:90060
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Intestinal polyposis, Apnea, Rhabdomyosarcoma, Osteolysis, Cleft palate, Co...	ORPHA:1052
Fanconi Renotubular Syndrome 1	Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia	OMIM:134600
Lymphoid Interstitial Pneumonia	Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Mediastinal lymphadenopathy, Clubb...	ORPHA:79128
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno...	ORPHA:93315
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Recurrent fractures, Limitation of joint mobility, Slender long bone, Ab...	ORPHA:1486
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth,...	OMIM:620370
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Hyperhomocyst...	ORPHA:79284
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Optic neuropathy, Bilateral tonic-clonic seizure, Infantile ...	ORPHA:79241
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Elevate...	OMIM:239000
Tuberculosis	Weight loss, Cough	ORPHA:3389
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Pathologi...	OMIM:112200
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Nausea	ORPHA:403
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros...	ORPHA:85188
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Joint stiffness, Flexion contracture, Elbow flexion co...	OMIM:248370
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d...	ORPHA:94089
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Apnea, Infantile spasms, Protruding tongue, Weakness of facial muscu...	ORPHA:98889
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Abnormality on pulmonar...	ORPHA:133
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Congestive heart failure, Diarrhea, Dyspnea,...	ORPHA:67
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath...	ORPHA:280679
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a...	OMIM:619658
Osteoglophonic Dysplasia	Respiratory distress, Osteopenia, Short metatarsal, High palate, Short palm, Short phalanx of fin...	OMIM:166250
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Crackles, Elevated circulating C-reactive protein conc...	ORPHA:2902
Acute Liver Failure	Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil...	ORPHA:90062
Bohring-Opitz Syndrome	Apnea, Facial hypotonia, Limitation of joint mobility, Bilateral wrist flexion contracture, Optic...	ORPHA:97297
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Odynophagia, Bloody diar...	ORPHA:99826
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hyp...	ORPHA:251274
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Impaired distal proprioception, Ragged-re...	OMIM:607459
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di...	ORPHA:103910
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia	OMIM:301081
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cle...	OMIM:239300
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating...	ORPHA:420741
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom...	ORPHA:85443
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Achondrogenesis Type 1A	Femoral hernia, Recurrent fractures, Abnormal enchondral ossification, Short foot, Short palm, Um...	ORPHA:93299
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Ataxia, Apnea, Tachypnea, Seizure, Hand polydactyly, Foot polydactyly	ORPHA:2318
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti...	ORPHA:3208
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Neonatal respiratory distress, Apnea, Limited hip extension, Flexion contracture, Re...	OMIM:614653
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Apnea, Low plasma citrulline, Optic atrophy, Seizure, Increased hepatic echogenicit...	OMIM:261680
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth	ORPHA:949
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, Supernumerary nipple, Proximal femo...	ORPHA:397715
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Apnea, Dysmetria, Gait ataxia, Seizure, High palate, Focal impaired awareness seizure, Clinodacty...	OMIM:618056
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contractures of th...	ORPHA:96092
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Nausea	ORPHA:404
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Apnea, Dyspnea, Seizure, Hyperventilation	OMIM:229700
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Apnea, Diarrhea, Cardiorespiratory arrest, Choreoathetosis, Athetosis, Constipation,...	OMIM:608643
Familial Dysautonomia	Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Recur...	ORPHA:1764
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Apnea, Ataxia, Cleft palate, Seizure, Hand polydactyly, Abnormal pattern o...	ORPHA:220497
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Apnea, Small for gestational age, Bilateral tonic-clonic seizure, Gastrointestinal dysmot...	OMIM:617799
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis...	ORPHA:1304
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Apnea, Ataxia, Cryptorchidism, Optic atrophy, Choreoathetosis, Seizure, ...	OMIM:614969
Ogden Syndrome	Congenital hip dislocation, Apnea, Generalized-onset seizure, Microvesicular hepatic steatosis, V...	OMIM:300855
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia	OMIM:208155
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Fibronectin Glomerulopathy	Hypertension, Hypoalbuminemia, Cerebral hemorrhage	ORPHA:84090
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Paresthesia, Palpitations, Abnorma...	ORPHA:231625
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Avascular necrosis, Prolonged bleeding...	ORPHA:809
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Apnea, Bilateral tonic-clonic seizure, Splenomegaly, Neutropenia, Focal myoclonic s...	OMIM:617050
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Dysostosis, Stanescu Type	Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:1798
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Ataxia, Bilateral tonic...	OMIM:618426
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia, Chronic...	OMIM:613502
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:615157
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s...	OMIM:119600
Short Syndrome	Delayed eruption of teeth, Joint laxity, Micrognathia, Dental malocclusion, Downturned corners of...	OMIM:269880
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint hyperflexibility, Everted low...	ORPHA:2616
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Castleman Disease	Abnormality of the gastrointestinal tract, Myelofibrosis, Intestinal obstruction, Generalized lym...	ORPHA:160
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Ramon Syndrome	Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate	OMIM:266270
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F...	OMIM:613217
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Retinal arteriolar cons...	ORPHA:191
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Failure to thrive, Long fingers, Diarrhea, Flexion contracture, Optic atrophy, S...	OMIM:601110
Chylomicron Retention Disease	Impaired vibratory sensation, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes...	OMIM:246700
Zygomycosis	Fasciitis, Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Unusual gast...	ORPHA:73263
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Ataxia, Apnea, Cleft palate, Seizure, Hand polydactyly, Foot polydactyly, ...	ORPHA:220493
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Everted l...	ORPHA:2067
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Rocker bottom foot, Thromb...	ORPHA:163979
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failu...	ORPHA:276621
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Osteomalacia, Reduced bone mineral density, Hypopho...	ORPHA:157215
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Chronic d...	ORPHA:90362
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost...	OMIM:604757
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Small hand, Short foot, Seizure, Abnormal autonomic nervous system physiology, Hyperventil...	OMIM:617903
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Cl...	ORPHA:744
Johanson-Blizzard Syndrome	Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2315
Graft Versus Host Disease	Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Tr...	ORPHA:39812
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Inflammation of the large intes...	OMIM:614700
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Hig...	ORPHA:740
Pachydermoperiostosis	Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic...	ORPHA:2796
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Kenny-Caffey Syndrome, Type 1	Carious teeth, Decreased skull ossification, Calvarial osteosclerosis	OMIM:244460
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandible morphology, Cle...	ORPHA:2215
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea	OMIM:616896
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Seizure, Apneic episodes in infancy, Generalized amyotrophy	OMIM:610006
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Limited elbow movement, High, narrow palate, Emphysema, Arac...	ORPHA:558
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fusion, Limited knee flexion, C...	OMIM:311300
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets	OMIM:616026
Cerebrotendinous Xanthomatosis	Osteopenia, Precocious atherosclerosis, Abnormal tibia morphology, Abnormal finger morphology, Ab...	ORPHA:909
Unilateral Polymicrogyria	Apnea, Epistaxis, Pulmonary arteriovenous malformation, Infantile spasms, Focal-onset seizure, Se...	ORPHA:268943
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypoalbuminemia, Short ...	OMIM:235510
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth	ORPHA:2348
3-Methylglutaconic Aciduria, Type Viii	Apnea, Patent ductus arteriosus, Jaundice, Neutropenia, Hypopnea, Seizure, Respiratory failure, B...	OMIM:617248
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Decreased testicular size, Broad hallux, Cryptorchidism, Generalized joint laxity, Sm...	ORPHA:251028
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema...	ORPHA:284227
Slc39A8-Cdg	Osteopenia, Sudden episodic apnea, Failure to thrive in infancy, Craniosynostosis, Abnormal blood...	ORPHA:468699
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Elevated alkaline phosphatase of bone origin	OMIM:167320
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Vertebral hyperostosis, T...	OMIM:164200
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Recurrent fractures, Arterial rupture, Reduced bone mineral density, Bruising su...	OMIM:619115
Cog8-Cdg	Skeletal muscle atrophy, Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Seizure, Prot...	ORPHA:95428
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossification, High...	OMIM:271640
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Kleefstra Syndrome Due To A Point Mutation	Tracheomalacia, Natal tooth, Thick lower lip vermilion, Abnormality of the dentition	ORPHA:261652
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Seizure, Bone cyst, Pathologic fracture, Myoclonus	OMIM:221770
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Hypermobile Ehlers-Danlos Syndrome	Apnea, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Osteoarthritis, Gas...	ORPHA:285
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Gastroesophageal reflux, Cough, Vasculitis, Respirato...	ORPHA:183
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal...	ORPHA:198
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Seizure, Vomiting, Apnea	ORPHA:137754
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Bronchiectasis, Vomiting...	OMIM:619445
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Decreased response ...	OMIM:619503
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractur...	ORPHA:2785
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Tented upper l...	OMIM:615716
Joubert Syndrome 21	Apnea, Ataxia, Dyspnea, Splenomegaly, Optic atrophy, Megalopapilla, Seizure, Respiratory failure,...	OMIM:615636
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Shoulder dislocatio...	OMIM:245600
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Joint laxity, Hypoventilation, ...	ORPHA:438213
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Nause...	ORPHA:244242
Fanconi-Bickel Syndrome	Osteopenia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating a...	ORPHA:2088
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ...	OMIM:243150
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ...	OMIM:101800
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Delayed skeletal matur...	ORPHA:808
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Pain insensitivity, Telangiectasia of the skin, ...	ORPHA:679
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ...	OMIM:614576
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High p...	OMIM:300867
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Cachexia, Supernumerary nipple, Cr...	ORPHA:217346
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Increased hepatocellular lipid droplet...	ORPHA:71
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Decrease...	ORPHA:93325
Scarf Syndrome	Coronal craniosynostosis, Enamel hypoplasia, Lambdoidal craniosynostosis, Long philtrum	OMIM:312830
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Short palm, Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Brachydactyly	ORPHA:3217
Neuropathy, Hereditary Sensory And Autonomic, Type V	Impaired vibratory sensation, Pain insensitivity, Osteomyelitis, Recurrent fractures, Impaired pa...	OMIM:608654
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ...	ORPHA:90321
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Postaxial hand polydactyly, Cachexia	ORPHA:1389
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ...	ORPHA:440437
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth...	ORPHA:98754
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Micrognathia,...	ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Hypoventilation, Recurrent fractures, Optic atrophy, Seizure, High palate, Overlapp...	OMIM:606056
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Parest...	ORPHA:3165
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Vomiting, Hypoalbuminemia, Hep...	OMIM:277900
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mouth, Hypodontia, ...	OMIM:617052
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration	OMIM:174050
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ...	ORPHA:494424
Intestinal Dysmotility Syndrome	Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu...	OMIM:620045
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Intracranial hemorrhage, Seizure, Incre...	ORPHA:447788
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h...	OMIM:619055
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti...	OMIM:131300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth...	ORPHA:98793
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Joubert Syndrome 14	Ataxia, Postaxial polydactyly, Optic atrophy, Cleft palate, Intracranial hemorrhage, Hypertension	OMIM:614424
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Joint hypermobility, Carious teeth, Widely spaced teeth, Yellow-brown ...	OMIM:619229
Myotonia, Potassium-Aggravated	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Stridor, Skeletal mu...	OMIM:608390
Cystinosis	Portal hypertension, Malabsorption, Rickets, Myopathy, Hypokalemia, Vomiting, Hypophosphatemia, F...	ORPHA:213
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Thick lower lip vermilion, Flexion contracture, Macroglossia, Widely s...	OMIM:309900
Lynch Syndrome	Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Amyop...	OMIM:312150
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes...	ORPHA:400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ...	ORPHA:79127
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Respiratory insufficiency due to muscle weakness, Diarrhea, Ricke...	ORPHA:18
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Esophageal atres...	ORPHA:3380
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth...	ORPHA:177904
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ...	ORPHA:476126
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Seizure, Purpura	OMIM:612304
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Xfe Progeroid Syndrome	Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Hypoalbumin...	OMIM:610965
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth...	ORPHA:177901
Emanuel Syndrome	Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p...	OMIM:609029
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Diarrhea, Splenomegaly, In...	OMIM:601847
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ve...	ORPHA:97287
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Villous atrophy, Generalized-onset seizure, Flexion contracture, Dysmetria, Vomiting,...	OMIM:212065
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Calf muscle pseudohypertrophy, Ataxia, Elevated circulating creatin...	ORPHA:96180
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Hypoparathyroidism, ...	ORPHA:199299
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure...	OMIM:261740
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Carpenter Syndrome 1	Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia,...	OMIM:201000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Decreased calvarial ossification, Recurrent fractures, Joint hyperflexibility	ORPHA:2772
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Telangiectases of the cheeks, Limited sh...	ORPHA:576
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac...	ORPHA:103907
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Orofaciodigital Syndrome Xvi	Inguinal hernia, Apnea, Ataxia, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot p...	OMIM:617563
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Seizure, Hypoalbuminemia, P...	ORPHA:529808
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate...	ORPHA:2108
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Inguin...	ORPHA:90349
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Seizure, Hypoalbuminemia, P...	ORPHA:529799
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Giant Cell Arteritis	Glossitis, Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Joint stiffness, Cough, Mediast...	ORPHA:397
Keppen-Lubinsky Syndrome	Decreased testicular size, Failure to thrive, Lipodystrophy, Dyspnea, Flexion contracture, Recurr...	ORPHA:435628
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Diarrhea, Osteoporosis, Rickets, Vomiting, Myoclonus, Failure to thrive	OMIM:560000
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Autoimmun...	ORPHA:391487
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Seizure, Fetal intraventricular hemorrhage, High palate, Constipation, Clinodactyly of the 5th fi...	OMIM:618480
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Recurren...	ORPHA:1775
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Bowel incontinence, Congestive heart failure, ...	ORPHA:330001
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,...	ORPHA:536545
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Tachypnea, Hyperammonemia, Weight loss, Seizure, Thrombocytopenia	ORPHA:79242
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo...	OMIM:601812
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Mediastinal lymphadenopathy, Lym...	ORPHA:199241
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn...	ORPHA:33276
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype...	ORPHA:1345
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:214900
Whim Syndrome	Abnormal small intestine morphology, Lymphopenia, Sinusitis, Pneumonia, Lymphadenitis, Recurrent ...	ORPHA:51636
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Cachexia, ...	ORPHA:647
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, I...	OMIM:304790
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Overlapping toe, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Cryptorchidism, Pate...	OMIM:616682
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea, Bilateral cryptorchidism, Neuromuscular dysphagia, Seizure, Hip dysplasia,...	ORPHA:466722
Adamantinoma	Pathologic fracture, Bone pain, Hypercalcemia	ORPHA:55881
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Generali...	OMIM:619472
Joubert Syndrome 1	Central apnea, Optic disc pallor, Hemifacial spasm, Ataxia, Episodic tachypnea, Protruding tongue...	OMIM:213300
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Diarrhea, Tachypnea, Leukocytosis, Hyperammonemia, Weight loss, Hypertensio...	ORPHA:134
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos...	OMIM:101200
Lathosterolosis	Toe syndactyly, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, Increased mean p...	OMIM:607330
Kcnq2-Related Epileptic Encephalopathy	Seizure, Epileptic spasm, Apnea, Generalized tonic seizure	ORPHA:439218
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Amyop...	OMIM:253290
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,...	OMIM:617952
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100082
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failu...	ORPHA:29072
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100080
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala...	ORPHA:50945
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Femoral b...	OMIM:231070
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Inflammation of the large intestine, Cough, Emphysema, Abnormal sali...	OMIM:181000
Grange Syndrome	Syndactyly, Recurrent fractures, Carotid artery stenosis, Renovascular hypertension, Increased su...	OMIM:602531
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility	ORPHA:2058
Sotos Syndrome	Mandibular prognathia, Joint laxity, High, narrow palate, Narrow jaw, Narrow palate, High palate,...	OMIM:117550
Fanconi-Bickel Syndrome	Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest...	OMIM:227810
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename...	ORPHA:73223
Juvenile Dermatomyositis	Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:93672
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Optic atro...	OMIM:619487
Thymic Carcinoma	Neoplasm of the thymus, Dyspnea, Mediastinal lymphadenopathy, Weight loss, Cough, Abnormal vena c...	ORPHA:99868
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Aganglionic megacolon, Decreased heart rate variability, Apnea, Central hypovent...	OMIM:209880
Juvenile Huntington Disease	Ataxia, Chorea, Weight loss, Gait ataxia, Progressive cerebellar ataxia, Seizure, Myoclonus	ORPHA:248111
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Osteoporosis...	OMIM:268400
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Diarrhea, Leukocytosis, Cardiorespiratory arrest, Weight loss, Pleural...	ORPHA:188
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Neoplasm of the pancreas, Somatic sensory dysfunction, Torticollis, Elevated c...	ORPHA:370348
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Recurrent pneumo...	OMIM:609465
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608629
Glutaryl-Coa Dehydrogenase Deficiency	Ataxia, Infantile spasms, Chorea, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Seizure, Dy...	ORPHA:25
Mitochondrial Complex I Deficiency, Nuclear Type 2	Increased serum pyruvate, Apnea, Hypercapnia, Respiratory insufficiency, Seizure, Apneic episodes...	OMIM:618222
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures	OMIM:613982
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Chikungunya	Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Gingival bleeding, St...	ORPHA:324625
Stickler Syndrome	Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ...	ORPHA:828
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Elevated circulating C-reactive protein concent...	ORPHA:449400
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Bowing of the arm, ...	OMIM:619131
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Seizure, Craniosynostosis, Moyamoya phenomenon	ORPHA:401986
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Joubert Syndrome 2	Central apnea, Ataxia, Episodic tachypnea, Postaxial hand polydactyly, Optic disc coloboma, Posta...	OMIM:608091
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concen...	OMIM:164310
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Cockayne Syndrome Type 3	Optic disc pallor, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Subd...	ORPHA:90324
Dermatitis Herpetiformis	Microcytic anemia, Bone pain, Recurrent fractures, Malabsorption	ORPHA:1656
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Cryptor...	OMIM:307030
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Myocardial infarction, Neoplasm of the anterior pituitary,...	ORPHA:54595
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Semilobar Holoprosencephaly	Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ...	ORPHA:93924
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Geroderma Osteodysplastica	Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo...	ORPHA:2078
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Camptodactyly, J...	OMIM:247200
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Mal...	OMIM:123790
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Inguinal hernia, Decreased muscle mass, Craniosynostosis, Tapered finger, Dyse...	ORPHA:2953
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Submucous cleft har...	ORPHA:2671
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Viral hepat...	ORPHA:91139
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a...	ORPHA:35858
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Ataxia, Retroperitoneal fibrosis, Congestive heart...	ORPHA:35687
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin...	OMIM:619079
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612286
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia	ORPHA:1055
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Abnormal toe morphology, Abnormal finger morphology, Coarctation...	OMIM:163200
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Arthralgia/arthritis, Osteomyelitis, ...	ORPHA:449280
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Cleft palate, Carpa...	OMIM:272460
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:619484
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide mouth, Elevated circulating alk...	OMIM:618580
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia,...	ORPHA:171
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Microdontia, Enamel hypoplasia, Retrognathia, Limited elbow extension	OMIM:210720
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, Nausea, He...	ORPHA:53035
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Micrognathia, Abnor...	OMIM:151050
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Oligoarthritis, T lymphocytopeni...	OMIM:619510
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Microphthalmia, Syndromic 9	Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi...	OMIM:601186
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Congenital Erythropoietic Porphyria	Osteopenia, Erythrodontia, Osteoporosis, Osteolysis	ORPHA:79277
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat...	OMIM:130070
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Emphysema, Intracranial hemorrhage, ...	ORPHA:363618
Attrv30M Amyloidosis	Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Abnormal autonomic n...	ORPHA:85447
Acute Transverse Myelitis	Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Gastroparesis...	ORPHA:139417
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Osteomalacia, El...	ORPHA:1652
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Odynophagia, Jaw claudication,...	ORPHA:221098
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Small intestinal dysmotility, Sinus bradycardia, Hypopnea, Chronic consti...	OMIM:619482
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100075
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Knee flexion contracture, Sclerosis of skull base, Elevated circulating alkali...	OMIM:618162
Huntington Disease-Like 2	Chorea, Weight loss	ORPHA:98934
Mccune-Albright Syndrome	Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Elevated circulating growth...	OMIM:174800
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail...	ORPHA:100078
Spondyloenchondrodysplasia	Delayed eruption of teeth, Juvenile rheumatoid arthritis, Dental malocclusion, Arthritis	ORPHA:1855
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,...	OMIM:180300
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Abnormal dental ename...	ORPHA:221008
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Tented upper...	OMIM:614749
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Bruising susceptibility, Recurrent fractures, Arterial rupture, Joint hypermobility	OMIM:619120
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaun...	ORPHA:30391
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth...	OMIM:301072
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Joint laxity, Progressive flexion contractures, Ataxia, Equinus calcaneus, Chorea,...	ORPHA:522077
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma...	ORPHA:70591
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Joint hyperflexib...	ORPHA:77301
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat...	ORPHA:263455
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Avascular necrosis, Ataxia, Vasculitis, Lymp...	ORPHA:117
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Abnormal palate morphology	ORPHA:3042
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Boudin-Mortier Syndrome	Joint laxity, Malar flattening, Elevated alkaline phosphatase of bone origin	OMIM:619543
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia, Osteoporosis	OMIM:224230
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Postaxial h...	OMIM:235255
Pulmonary Alveolar Microlithiasis	Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxygen desaturati...	ORPHA:60025
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ...	ORPHA:369837
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ...	OMIM:235555
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcer...	ORPHA:99867
Meningioma	Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Upper limb muscl...	ORPHA:2495
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f...	OMIM:613489
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an...	OMIM:615846
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Osteomalacia, Cryptorchidism,...	OMIM:309000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Micrognathia, Wide anterior fontan...	OMIM:614866
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Neonatal death, Neonatal respiratory distress, Esophageal atresia, Patent ductus arteri...	OMIM:265380
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Reduced circulating prolactin concentration, Delayed skeletal maturation, Os...	ORPHA:2235
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia...	ORPHA:210122
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Generalized joint laxity, Delayed ossification of c...	OMIM:600373
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Hyponatremia, Abnormal dental enamel...	ORPHA:534
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Thin bony cortex, Hyper...	OMIM:612731
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Long fingers...	OMIM:309583
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration	OMIM:615424
Complete Atrioventricular Septal Defect	Crackles, Tachypnea, Atrioventricular block, Abnormal EKG, Hepatomegaly, Intercostal retractions,...	ORPHA:1329
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Gingiv...	OMIM:135500
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Seizure	ORPHA:2481
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Focal autonomic seizure with epig...	ORPHA:247257
Lead Poisoning	Delayed eruption of teeth, Cranial hyperostosis	ORPHA:330015
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:617093
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Spastic Paraplegia Type 2	Ataxia, Bowel incontinence, Pulmonary embolism, Limitation of joint mobility, Optic atrophy	ORPHA:99015
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin...	OMIM:214950
Arachnoid Cyst	Facial palsy, Subarachnoid hemorrhage, Cranial nerve compression, Distal sensory impairment, Seiz...	ORPHA:2356
Medulloblastoma	Ataxia, Cerebellar hemorrhage, Adenomatous colonic polyposis, Dysmetria, Progressive cerebellar a...	ORPHA:616
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei...	OMIM:614231
Developmental And Epileptic Encephalopathy 95	Joint laxity, Multiple joint contractures, Deep philtrum, Gingival overgrowth, Low alkaline phosp...	OMIM:618143
Myotonia Fluctuans	Stridor, Apnea, Spasticity of facial muscles	ORPHA:99734
Kallmann Syndrome	Ataxia, Recurrent fractures, Cryptorchidism, Delayed skeletal maturation, Obesity, Cleft palate, ...	ORPHA:478
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Neuroblastoma, Susceptibility To, 1	Ataxia, Diarrhea, Bone pain, Horner syndrome, Weight loss, Hypertension, Myoclonus, Failure to th...	OMIM:256700
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Jo...	OMIM:230740
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Ectopic ossification, Enamel hypoplasia, Increased bone mineral density	ORPHA:79444
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ...	ORPHA:785
Yellow Fever	Elevated circulating creatine kinase concentration, Vomiting, Nausea, Internal hemorrhage, Abnorm...	ORPHA:99829
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Respiratory insufficiency, Duodena...	ORPHA:1759
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Downturned corners of mouth, Ele...	ORPHA:247262
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Apnea	ORPHA:1129
Cholesteryl Ester Storage Disease	Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype...	OMIM:278000
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Optic neuropathy, Raynaud phenomenon, Arterial occ...	OMIM:259900
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic an...	OMIM:613795
Focal Myositis	Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh...	ORPHA:48918
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Recurrent fractures, Heart block, Raynaud phenomenon, Arterial ...	ORPHA:416
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Increas...	ORPHA:57777
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear...	ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia, Failure to t...	OMIM:616430
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, F...	ORPHA:85408
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos...	ORPHA:263501
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp...	OMIM:614188
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Intestinal malrotation, Cryptorchidism, Patent ductus ...	OMIM:102500
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Chorea, Vomiting, Hypocal...	ORPHA:94093
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Narrow mouth, Generalized joint laxity, High palate, Small...	ORPHA:2962
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Advanced eruption of teeth, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the ...	ORPHA:280365
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss, Distal sensory impairment	ORPHA:84142
Neurofibromatosis Type 1	Ataxia, Recurrent fractures, Joint stiffness, Cryptorchidism, Arterial stenosis, Genu valgum, Chr...	ORPHA:636
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Lymphadenopathy, Weight loss, Macroglossia, Ovarian neoplasm, Glossitis	ORPHA:2221
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Limited elbow extension and supination, Shor...	OMIM:180700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters	ORPHA:79396
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Splenomeg...	ORPHA:1655
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Downturned corners of mouth, Elev...	OMIM:618548
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Osteolytic defec...	OMIM:309350
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Addison Disease	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoparathyroidism, Primary testicular ...	ORPHA:85138
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Pmm2-Cdg	Respiratory distress, Osteopenia, Multiple joint contractures, Intracranial hemorrhage, Vomiting,...	ORPHA:79318
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Vomiting,...	OMIM:619991
Robinow Syndrome	Fused thoracic vertebrae, Dental crowding, Persistence of primary teeth, Micrognathia, Dental mal...	ORPHA:97360
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Nelson Syndrome	Testicular neoplasm, Pituitary corticotropic cell adenoma, Quadriceps muscle atrophy, Adrenocorti...	ORPHA:199244
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Cough, Vasculit...	ORPHA:900
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Cryptococcosis	Osteomyelitis, Osteolysis	ORPHA:1546
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ...	ORPHA:97261
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crackles, Dyspnea, Clubbing, Intraalveolar phospholip...	ORPHA:747
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth	ORPHA:508542
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Generalized-onset seizure, Decreased response to growth hormone stimulation ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Generalized-onset seizure, Decreased response to growth hormone stimulation ...	ORPHA:363958
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge...	ORPHA:251071
Huntington Disease-Like 1	Chorea, Dysmetria, Weight loss, Abnormal shoulder morphology, Gait ataxia, Seizure	ORPHA:157941
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility	OMIM:615220
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine	OMIM:191390
Fryns Syndrome	Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestational age, Prominent fing...	OMIM:229850
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Tapered finger, Intraventricular hemorrhage, Hydrocele testis, Seizure, Co...	OMIM:613603
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic...	OMIM:614602
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice	OMIM:605479
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Abnormal retinal artery morphology,...	ORPHA:51608
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Hi...	ORPHA:84
Vipoma	Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, He...	ORPHA:97282
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ...	ORPHA:767
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Constipation, Neoplasm of the small intestine, Subcutaneous ...	ORPHA:97283
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:613291
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre...	OMIM:619573
Brittle Cornea Syndrome 2	Inguinal hernia, Recurrent fractures, Umbilical hernia, Bruising susceptibility, Joint hypermobility	OMIM:614170
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c...	OMIM:223370
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abno...	ORPHA:1666
Cap Polyposis	Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation, Colorectal polyposis	ORPHA:160148
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Malabsorption, Intestina...	ORPHA:537
Nocardiosis	Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Produ...	ORPHA:31204
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec...	OMIM:606367
Drug Reaction With Eosinophilia And Systemic Symptoms	Cardiac arrest, Eosinophilia, Dyspnea, Myocarditis, Hepatitis, Weight loss, Lymphadenopathy, Inte...	ORPHA:139402
Meier-Gorlin Syndrome 7	Bowing of the legs, Heart block, Anteriorly placed anus, High palate, Dislocated radial head, 2-4...	OMIM:617063
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of facial mu...	OMIM:617239
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Hyperost...	ORPHA:79443
Ppoma	Hepatomegaly, Intermittent jaundice, Constipation, Intestinal carcinoid, Neoplasm of the small in...	ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:613812
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Accelerated skeletal maturation, Testicular adrenal rest tumor, Polycystic ovaries, Intracranial ...	ORPHA:90795
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Cranioectodermal Dysplasia 1	Joint laxity, Sagittal craniosynostosis, High, narrow palate, Osteoporosis, High palate, Widely s...	OMIM:218330
Huntington Disease	Oral-pharyngeal dysphagia, Chorea, Weight loss, Seizure, Abnormal circulating cholesterol concent...	ORPHA:399
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Neonatal respiratory distress, Intestinal malrotation, Congenital diaphragma...	ORPHA:2847
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ileus, Weight loss	ORPHA:168811
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Xq12-Q13.3 Duplication Syndrome	Everted lower lip vermilion, Low alkaline phosphatase	ORPHA:314389
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Mic...	OMIM:619525
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte...	OMIM:266600
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi...	ORPHA:75249
Alg9-Cdg	Villous atrophy, Narrow greater sciatic notch, Vomiting, Gastroesophageal reflux, Abnormal bone o...	ORPHA:79328
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Estrogen Resistance	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615363
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Ele...	ORPHA:50918
Central Diabetes Insipidus	Hyponatremia, Diarrhea, Weight loss, Seizure, Failure to thrive	ORPHA:178029
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization	OMIM:133780
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele...	OMIM:619662
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase...	ORPHA:186
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Diarr...	OMIM:301074
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Flexion contracture, Knee flexion contracture, High palate, Aspiratio...	ORPHA:2020
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Cough, Dyspnea, Diarrhe...	ORPHA:36426
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr...	OMIM:615710
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Constipation, Subcutaneous lipoma, Elevated ...	ORPHA:97280
Incontinentia Pigmenti	Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth	OMIM:308300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Decreased calvarial ossi...	OMIM:617925
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Elevated circulating aspartate aminotransferase concentration, Cleft l...	OMIM:280000
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crow...	OMIM:268310
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, D...	ORPHA:95409
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro...	OMIM:616828
Idiopathic Juvenile Osteoporosis	Bone pain, Osteoporosis, Recurrent fractures	ORPHA:85193
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ...	OMIM:613406
Trigonocephaly 1	Omphalocele, High, narrow palate, Meckel diverticulum, Craniosynostosis	OMIM:190440
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Tibial bowing, Increased sus...	OMIM:259770
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Bone pai...	OMIM:600740
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder, Hern...	ORPHA:264450
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Generalized joint laxity, High palate, Ecchymosis, Joint laxity, Tricuspid regurgitation, Arachno...	OMIM:601776
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Joint stiffness, Carious teeth, Flexion contracture, Macroglossia	OMIM:253200
Erythrokeratodermia Variabilis	Brachydactyly, Weight loss, Abnormal testis morphology, Tapered finger	ORPHA:317
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Limitat...	OMIM:216400
X-Linked Intellectual Disability, Snyder Type	Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Cryptorchidism, Osteoporosi...	ORPHA:3063
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,...	ORPHA:79408
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ...	OMIM:122470
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Dental crowding, Downturned corners of mouth, Macroglossia, Wide mouth, Distal arth...	OMIM:618268
Trichohepatoenteric Syndrome 1	Villous atrophy, Hepatic fibrosis, Hypoalbuminemia, Intractable diarrhea, Bifid uvula, Hepatomega...	OMIM:222470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Micrognathia, Pierre-Robin sequence, Flexion contracture, Gingival overgrowth, E...	OMIM:300868
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Cachexia, Optic atrophy, Ataxia	ORPHA:220295
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Limitation of joint mobility, Symphalangism af...	ORPHA:2547
Syndromic Diarrhea	Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He...	ORPHA:84064
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Finger joint hypermobility, Hypermobility of inte...	OMIM:130050
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Optic atrophy, Recurrent fractures, Rickets	OMIM:268315
Nephroblastoma	Hypertension, Weight loss, Lymphadenopathy, Neoplasm of the liver	ORPHA:654
Coccidioidomycosis	Arthritis, Osteomyelitis, Osteolysis	ORPHA:228123
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm, Shortened QT interva...	ORPHA:143
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Palpable purpur...	ORPHA:48435
Diarrhea 9	Diarrhea, Failure to thrive, Villous atrophy	OMIM:618168
Dubowitz Syndrome	Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Micrognathia, Submucou...	ORPHA:235
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Ost...	OMIM:182250
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Abnormal liver sonography, Biliary tract ab...	ORPHA:90003
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun...	ORPHA:1333
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma mo...	ORPHA:1332
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Opitz Gbbb Syndrome	Natal tooth, Craniosynostosis, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Lo...	ORPHA:2745
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonary embolism, Periana...	ORPHA:444490
Pitt-Hopkins Syndrome	Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth...	ORPHA:2896
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Metachromatic Leukodystrophy	Ataxia, Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abn...	ORPHA:512
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Craniosynostosis, Micrognathia, Portal hypertension, Elevated circ...	OMIM:620005
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Skeletal muscle atrophy, Cachexia, Short hard palate, Genu varum	ORPHA:1969
Yao Syndrome	Pericarditis, Asthma, Diarrhea, Xerostomia, Weight loss, Arthritis	OMIM:617321
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Pituitary hypothyroidism, Intracranial hemorrhage, Inc...	ORPHA:91350
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Diarrhea, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Colitis, Stea...	ORPHA:309031
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ...	ORPHA:309108
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Joint hypermobility, Carious teeth, Hig...	OMIM:278250
Hydranencephaly	Stiff neck, Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of th...	ORPHA:2177
Huntington Disease-Like 2	Chorea, Weight loss	OMIM:606438
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Thick lower lip vermilion, Wid...	ORPHA:1465
Perry Syndrome	Central hypoventilation, Hypotension, Weight loss	ORPHA:178509
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Acrocephalopolydactylous Dysplasia	Omphalocele, Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Postaxial ha...	OMIM:200995
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol...	ORPHA:797
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Hypophosphatemia, Increased s...	ORPHA:3337
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ...	ORPHA:733
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive in infancy, Oral-pharyngea...	OMIM:219800
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Patent...	OMIM:115470
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo...	ORPHA:79102
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem...	ORPHA:743
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Decreased hip abduction, Limited hip extension, Camptodactyly of finge...	OMIM:143095
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss, Menorrhagia, Constipation	ORPHA:168816
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormal dental enamel morphology, Mal...	ORPHA:79430
Rat-Bite Fever	Pericarditis, Myocarditis, Diarrhea, Lymphadenitis, Oligoarthritis, Tendonitis, Weight loss, Anem...	ORPHA:31205
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermi...	OMIM:615873
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Vascular Ehlers-Danlos Syndrome	Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, narrow palate...	ORPHA:286
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Carious teeth, Generalized joint laxity, High palate, Smal...	ORPHA:2834
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide mouth, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion, ...	OMIM:614207
Abeta Amyloidosis, Dutch Type	Seizure, Stroke, Cerebral hemorrhage	ORPHA:100006
Mungan Syndrome	Tricuspid regurgitation, Gastroparesis, Intestinal pseudo-obstruction, Barrett esophagus, Hypoper...	OMIM:611376
Kindler Syndrome	Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis	OMIM:173650
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Thick lower lip vermilion, Advanced eruption of teeth, Sm...	ORPHA:404448
Granulomatosis With Polyangiitis	Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Respi...	OMIM:608710
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Median cleft lip and palate	OMIM:269860
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,...	ORPHA:71273
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Abnormality of the sphenoid sinus, Thickened cortex of long...	ORPHA:97685
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentr...	OMIM:175780
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi...	ORPHA:567983
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Hypoperistalsis, Cough, Dyspnea, Esophageal neoplasm, Weight loss, Abnormal ...	ORPHA:1018
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Diarrh...	ORPHA:29207
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract...	OMIM:209920
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly...	ORPHA:447
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Cons...	ORPHA:2126
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Diarrhea, Vacuolated lymphocytes, Delayed skeletal maturation, Macrog...	OMIM:208400
Netherton Syndrome	Villous atrophy, Allergic rhinitis, Asthma, Hypereosinophilia, Chronic rhinitis, Failure to thriv...	OMIM:256500
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss	ORPHA:86884
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Accelerated skeletal maturation, Narrow greater sciatic notch, S...	OMIM:312870
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Hepatomegaly, Small for gestational age, Refractory sidero...	OMIM:557000
Mowat-Wilson Syndrome	Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Flexion contracture, Calcaneovalgus de...	ORPHA:2152
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial...	ORPHA:99889
Abetalipoproteinemia	Abetalipoproteinemia, Fat malabsorption, Ataxia, Acanthocytosis	OMIM:200100
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste...	ORPHA:2470
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Limitation of joint mobi...	OMIM:133540
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Micrognathia, Ankylosis, Submucous cleft hard palate, Tempor...	OMIM:275210
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Hypovolemia, Weight loss, ...	ORPHA:99885
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Sturge-Weber Syndrome	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Optic atr...	ORPHA:3205
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Hematochezia, Protein-los...	OMIM:618183
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Graves Disease, Susceptibility To, 1	Goiter, Congestive heart failure, Weight loss	OMIM:275000
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Enlarged ovaries, Pneumonia, Abnormality of body weight...	ORPHA:2298
Familial Glucocorticoid Deficiency	Hyponatremia, Cryptorchidism, Diarrhea, Hyperkalemia, Testicular adrenal rest tumor, Hypoglycemic...	ORPHA:361
Tuberous Sclerosis Complex	Respiratory distress, Epileptic spasm, Infantile spasms, Focal-onset seizure, Pituitary adenoma, ...	ORPHA:805
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogeusia, Low alkaline phosphatase	OMIM:201100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level...	OMIM:613095
Restrictive Dermopathy	Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm...	ORPHA:1662
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Panniculitis, Weight loss	ORPHA:33577
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,...	ORPHA:818
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sc...	ORPHA:798
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Hypercalcemia, Weight loss	OMIM:143880
Pseudoaminopterin Syndrome	Sagittal craniosynostosis, Micrognathia, Limited elbow movement, Orofacial cleft, High palate, Sh...	ORPHA:221120
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Gastroesophageal reflux, Accessory spleen, Vertebral fusion, Pseudoepiphys...	OMIM:194190
Chronic Graft Versus Host Disease	Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasi...	ORPHA:99921
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Joint laxity, Delayed epiphyseal ossification, G...	ORPHA:93357
Choreoacanthocytosis	Impaired vibratory sensation, Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating ...	ORPHA:2388
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea	OMIM:614328
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d...	ORPHA:79500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Congenital Tracheal Stenosis	Respiratory distress, Meckel diverticulum, Abnormal stomach morphology, Ascending aorta hypoplasi...	ORPHA:141127
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Spontaneous pneumothorax, Protein-losing enteropathy	OMIM:618154
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn...	ORPHA:567548
Rubinstein-Taybi Syndrome 1	Joint laxity, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Micrognathia, Hypop...	OMIM:180849
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Joint hyperflexib...	ORPHA:3163
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Oromandibular Dystonia	Respiratory distress, Torticollis, Weight loss, Dysphagia	ORPHA:93958
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353281
Tsh-Secreting Pituitary Adenoma	Osteopenia, Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulating growth ho...	ORPHA:91347
Pallister-Killian Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac...	OMIM:601803
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Tachycardia, Hypokalemia, Weight loss	OMIM:613239
Down Syndrome	Short palm, Joint laxity, Aganglionic megacolon, Sandal gap, Protruding tongue, Pulmonary artery ...	OMIM:190685
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Osteoporosis	ORPHA:79404
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Hypoplasia of the maxilla, Abnormality of alkaline phosphatase level, Delayed ossif...	OMIM:300106
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Inguinal hernia, Joint laxity, Congestive heart failure, Dilata...	ORPHA:90348
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice	ORPHA:69665
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Skeletal muscle hypertrophy, Osteoarthritis, Subdural hemorrhage	OMIM:619714
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Syndactyly, Meckel diverticulum, Small for gestational...	ORPHA:1708
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:605814
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan...	ORPHA:99125
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Micrognathia, Cl...	OMIM:249000
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Diarrhea, Jaundice, Abnormal lymph node morphology, We...	ORPHA:677
African Trypanosomiasis	Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Abnormal EKG, Papilledema, Hepatomega...	ORPHA:3385
Osteogenesis Imperfecta, Type Xx	Multiple prenatal fractures, High palate, Narrow palate	OMIM:618644
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Micrognathia, Limitation of joint mobilit...	ORPHA:79474
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy	ORPHA:99978
Diethylstilbestrol Syndrome	Central apnea, Small for gestational age, Cryptorchidism, Testicular dysgenesis, Abnormal testis ...	ORPHA:1916
Serkal Syndrome	Malrotation of small bowel, Congenital diaphragmatic hernia, Pulmonic stenosis	ORPHA:139466
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Osteomalacia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Hypocalcemic ...	ORPHA:405
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level	ORPHA:247691
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss,...	ORPHA:764
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l...	ORPHA:100086
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Micrognathia, Flexion contracture, Hypoplastic facial bon...	OMIM:264090
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Conical tooth, Thick lower lip...	OMIM:135900
Microvillus Inclusion Disease	Diarrhea, Abnormal small intestinal villus morphology, Hypovolemia, Villous atrophy	ORPHA:2290
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Cleft palate, Neonatal breathing dysregulation	OMIM:610188
Focal Dermal Hypoplasia	Delayed eruption of teeth, Joint laxity, Cleft upper lip, Dental malocclusion, Cleft palate, Olig...	OMIM:305600
Liposarcoma	Varicose veins, Paresthesia, Weight loss	ORPHA:69078
Gerstmann-Straussler Disease	Limb ataxia, Weight loss, Gait ataxia, Myoclonus, Truncal ataxia, Lower limb muscle weakness	OMIM:137440
Renal Cysts And Diabetes Syndrome	Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase	OMIM:137920
Visceral Myopathy 1	Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Pancreatitis, Diarrhea, Cons...	OMIM:155310
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Cryptorchidism, Aplasia/Hyp...	OMIM:219000
Floating-Harbor Syndrome	Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ...	ORPHA:2044
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Radioulnar sy...	OMIM:606170
Cornelia De Lange Syndrome	Delayed eruption of teeth, Micrognathia, Joint stiffness, Cleft palate, Downturned corners of mou...	ORPHA:199
Familial Cerebral Cavernous Malformation	Venous malformation, Seizure, Episodic vomiting, Cerebral hemorrhage	ORPHA:221061
Glucose-Galactose Malabsorption	Hypercalcemia, Diarrhea, Weight loss, Vomiting, Hypernatremia, Failure to thrive	ORPHA:35710
Colonic Atresia	Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve...	ORPHA:1198
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm...	ORPHA:228116
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal...	ORPHA:353277
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypokalemia, Constipation, Vomiting, Hypophosphatemia,...	ORPHA:411629
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea...	ORPHA:449395
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f...	OMIM:617156
Mirizzi Syndrome	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	ORPHA:521219
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con...	ORPHA:562639
Norrie Disease	Cachexia, Venous insufficiency, Cryptorchidism, Optic atrophy, Seizure, Failure to thrive	ORPHA:649
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hypertension, Hypokal...	ORPHA:1501
Caroli Syndrome	Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ...	ORPHA:480520
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Weight loss, Increased blood urea nitrogen, Restrictive vent...	OMIM:233450
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Pancreatic calcification, Chronic calcifying pa...	ORPHA:103918
Proprotein Convertase 1/3 Deficiency	Diarrhea, Malabsorption, Obesity, Villous atrophy	OMIM:600955
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargemen...	ORPHA:79078
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Natal tooth, Thin upper lip vermilion, Camptodactyly of finger, Abnormality of the de...	ORPHA:3455
Reynolds Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Lip telan...	OMIM:613471
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Constipation, Anemia	ORPHA:52417
Hereditary Late-Onset Parkinson Disease	Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunctio...	ORPHA:411602
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Acrodermatitis Enteropathica	Malabsorption, Chronic diarrhea, Furrowed tongue, Weight loss, Failure to thrive, Glossitis	ORPHA:37
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	ORPHA:247598
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Accelerated skeletal maturation, Diarrhea, Weight loss, Thyroid hyperp...	ORPHA:424
Senior-Boichis Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy...	ORPHA:84081
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hyponatremia, Accelerated skeletal maturation, Hypovolemia, Hyperkalemia, Testicular adren...	ORPHA:90794
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, J...	OMIM:619534
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogr...	ORPHA:672
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ...	OMIM:124000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Sotos Syndrome	Joint laxity, Hip contracture, Ankle flexion contracture, Abnormality of the dentition, Craniosyn...	ORPHA:821
Bullous Pemphigoid	Weight loss	ORPHA:703
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Elevated circulating C-reactive protein concentration, Elevated c...	ORPHA:91500
Familial Gestational Hyperthyroidism	Goiter, Diarrhea, Thyroid hyperplasia, Weight loss	ORPHA:99819
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin	ORPHA:411634

Histopathology

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

There is no histopathology data for Alpl

IMPC related publications

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

No publications found that use IMPC mice or data for Alpl.

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MGI Allele	Allele Type	Produced
Alpl^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Alpl^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Alpl^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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