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Gene: Tnn MGI:2665790

Gene Summary

Name:

tenascin N

Synonyms:

Tnw, tenascin-W

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
small liver	Tnn^em1(IMPC)Mbp	HOM	Early adult
abnormal spleen morphology	Tnn^em1(IMPC)Mbp	HOM	Early adult
enlarged spleen	Tnn^em1(IMPC)Mbp	HOM	Early adult
abnormal liver morphology	Tnn^em1(IMPC)Mbp	HOM	Early adult

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tnn 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 Tnn (0 diseases)
Human diseases predicted to be associated with Tnn (1284 diseases)

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

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

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive	OMIM:226700
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79402
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia, Hepatic failure	ORPHA:3196
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis	ORPHA:363523
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
48,Xyyy Syndrome	Impulsivity, Aggressive behavior, Thick lower lip vermilion, Irregularly spaced teeth, High palat...	ORPHA:99329
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612463
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption...	OMIM:606893
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia, Dysphagia	OMIM:616029
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Hypophosphatasia, Childhood	Carious teeth, Low alkaline phosphatase, Premature loss of primary teeth	OMIM:241510
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
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
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Weight loss, Microglossia	ORPHA:141152
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Abnormality of alkaline phosphatase level, Head-banging, Delayed eruption of perman...	OMIM:619356
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:614727
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Intellectual Disability, Birk-Barel Type	Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal...	ORPHA:166108
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Increased body weight, Macrogl...	OMIM:614450
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Decreased body weight, Microdontia, Serrated i...	OMIM:272440
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Decreased body weight, Hyperactivity, Dental crowding, Persistence of primary teeth, Micrognathia...	OMIM:618342
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Aggressive behavior, Wide mouth, High palate, Attenti...	OMIM:618825
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Rubinstein-Taybi Syndrome 2	Hyperactivity, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ...	OMIM:613684
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Attention deficit hyperactivity d...	OMIM:618205
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration, Dentinogenesis imperfecta	OMIM:610968
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Hypophosphatasia, Adult	Premature loss of permanent teeth, Premature loss of primary teeth, Carious teeth, Low alkaline p...	OMIM:146300
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Elevated circulating alkaline phosphatase concentration, Hypoplasia of teeth	OMIM:613312
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Portal hypertension, Scarring alopecia of scalp, Jaundice, Oli...	ORPHA:59303
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
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
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase	OMIM:618879
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
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:612462
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Tooth agenesis, Truncal obesity, Microdontia	ORPHA:633
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D...	ORPHA:884
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Obesity, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathi...	OMIM:619269
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Decreased body weight, Umbilical hernia, Dentinogenesis imperfecta, Long p...	OMIM:614856
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Elevated circulating alkaline phosphatase concentration...	OMIM:277440
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Obesity	OMIM:103580
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Dysphagia, Atrophic scars, Narrow m...	OMIM:226600
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Agitation, Sulfite oxidase deficiency	OMIM:272300
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Elevated circulating alkaline phosphatase conce...	OMIM:122860
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E...	OMIM:617865
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Premature...	OMIM:610965
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Osteoglosphonic Dysplasia	Inguinal hernia, Failure to thrive in infancy, Micrognathia, Tooth agenesis, Multiple unerupted t...	ORPHA:2645
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Retrognathia, Elevated circulating alkaline phosphatase concentrat...	OMIM:614576
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Elevated circulating alkaline ph...	OMIM:264700
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel hypoplasia, Failure to t...	OMIM:615802
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Ab...	ORPHA:2471
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi...	ORPHA:137834
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Pierre-Robin sequence, Cleft palate, Oligodontia, Thi...	OMIM:619184
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Dysphagia, Abnormality of the dentition	ORPHA:289494
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Immunodeficiency 9	Stomatitis, Failure to thrive, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Obesity, High palate, Malar flattening	ORPHA:2180
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth	OMIM:619797
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Elevated circulating alkaline phosphatase concentration	OMIM:126550
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate, Small for gestational age	OMIM:262190
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Failure to thrive, Conical tooth	OMIM:617475
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Seckel Syndrome 1	Hyperactivity, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbo...	OMIM:210600
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Ele...	OMIM:269300
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Micrognathia, Carious te...	OMIM:214150
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Overweight, Obesity, Stereotypical hand wringing, Dysph...	OMIM:619229
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Failure to thrive, Elevated alkaline phosphatase of...	ORPHA:289157
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Portal hypertension, Jaundice, Oligodontia, Hypodontia, Enamel hypoplasia, Hepatic failure	OMIM:607626
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Acrootoocular Syndrome	Delayed eruption of teeth, Small for gestational age, Micrognathia, Grayish enamel, High, narrow ...	ORPHA:2980
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Elevated circulating alkaline phosphatase concentration, Cellulitis,...	ORPHA:89936
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Inguinal hernia, Hyperactivity, Thick lower lip vermilion, Cleft palat...	OMIM:614607
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hyperactivity, Small for gestational age, Micrognathia, Truncal obesit...	ORPHA:73272
Intermediate Osteopetrosis	Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Elevated circulati...	ORPHA:210110
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Taurodontism	Taurodontia	OMIM:272700
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Slender build, Aggressive behavior, Narrow palate, Short upper lip, Thick ...	ORPHA:364028
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Cockayne Syndrome Type 1	Mandibular prognathia, Elevated hepatic transaminase, Foot joint contracture, Scarring, Delayed e...	ORPHA:90321
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Aggressive behavior, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Short...	OMIM:620250
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro...	ORPHA:2063
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er...	OMIM:614608
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Umbilical hernia	OMIM:619769
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi...	OMIM:616354
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration, Premature loss of teeth, Fragile teeth	OMIM:174810
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ...	ORPHA:915
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia	ORPHA:2309
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hyp...	OMIM:212750
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental...	ORPHA:1327
Temtamy Syndrome	Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Self-mutilation	OMIM:218340
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Taurodontia, ...	OMIM:157980
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Three M Syndrome 2	Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Thick vermilion border...	OMIM:612921
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H...	OMIM:612350
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Cohen Syndrome	Small for gestational age, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short ph...	OMIM:216550
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Intellectual Developmental Disorder, Autosomal Recessive 39	Abnormal repetitive mannerisms, Hyperactivity, Dental malocclusion, Aggressive behavior	OMIM:615541
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Dysphagia, Abnormal repetitive mannerisms	OMIM:617802
Bone Marrow Failure Syndrome 3	Hyperactivity, Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdo...	OMIM:617052
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Small for gestational age, Micrognathia, Hypopla...	ORPHA:391408
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive b...	OMIM:610253
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia	OMIM:614381
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Brachydactyly, Type B1	Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly	OMIM:113000
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia	ORPHA:447896
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Tongue fasciculations	ORPHA:329475
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Lowry-Maclean Syndrome	Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High...	ORPHA:2409
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Cachexia, Micrognathia	ORPHA:808
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Abnormal mandible morphology, Dysphagia, Weight loss,...	ORPHA:93958
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Intestinal Dysmotility Syndrome	Failure to thrive, High palate, Broad philtrum, Weight loss	OMIM:620045
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Autosomal Dominant Hypophosphatemic Rickets	Elevated circulating alkaline phosphatase concentration, Tooth abscess	ORPHA:89937
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Flexion contracture, Long philtrum	ORPHA:263463
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Cachexia, Abnormal palate morphology, Long philtrum	ORPHA:1389
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas...	ORPHA:199276
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Aggressive behavior, Eruption failur...	ORPHA:476126
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Elevated circulating alkaline phosphatase concentration, Increased circulating lac...	OMIM:259700
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia, Interface hepatitis	OMIM:243150
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Scarf Syndrome	Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum	OMIM:312830
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa...	OMIM:619322
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er...	ORPHA:2348
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Failure to thrive, Eclabion	OMIM:616395
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Large for gestational age, Thick lowe...	ORPHA:261652
Short Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age...	OMIM:269880
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Micrognathia, Aggressive behavior, Dental malocclusion, Localized hypoplasia of dent...	ORPHA:73223
Flynn-Aird Syndrome	Carious teeth, Cachexia	ORPHA:2047
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Failure to thrive, Delayed eruption of primary teeth	OMIM:620099
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia, Chronic active hepatitis	OMIM:240300
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Neuromuscular dysphagia	ORPHA:466722
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue, Hypodontia	OMIM:612079
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Tented upper lip vermilion, Macroglossia, Elevated circulating alkaline phosphat...	OMIM:616025
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Truncal obesity, Enamel hypoplasia, Retrognathia	OMIM:210720
Paternal Uniparental Disomy Of Chromosome 1	Polyphagia, Abnormal dental enamel morphology, Obesity	ORPHA:251004
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia, Failure to thrive	ORPHA:79396
Christianson Syndrome	Mandibular prognathia, Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex cong...	ORPHA:85278
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Micrognathia, Flexion ...	ORPHA:1979
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Failure to thrive	ORPHA:2315
Immunodeficiency 49	Natal tooth, Umbilical hernia, Short philtrum, Micrognathia	OMIM:617237
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Hepatitis, Abnormal dental enamel morphology	ORPHA:1334
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Inguinal hernia, Aggressive behavior, Elbow flexion contracture, Knee flexion co...	OMIM:616809
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Jaundice, Failure to thrive	OMIM:612714
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia, Polyphagia, Obesity	ORPHA:79444
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Micrognathia, Open bite, Carious teeth, Abnormal palate morphology, Shagreen patch	ORPHA:2617
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Delayed eruption...	ORPHA:819
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Wide mouth	ORPHA:1231
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Tooth malposition	ORPHA:2484
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contr...	ORPHA:96092
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Small ...	OMIM:619148
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Aggressive ...	OMIM:616202
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Costello Syndrome	Failure to thrive in infancy, Abnormal dental enamel morphology, Abnormality of the dentition, Th...	ORPHA:3071
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr...	OMIM:601701
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Hypophosphatemic Rickets, X-Linked Dominant	Elevated circulating alkaline phosphatase concentration, Enamel hypomineralization	OMIM:307800
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Multiple Pterygium-Malignant Hyperthermia Syndrome	Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal lactate...	ORPHA:2215
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi...	ORPHA:96170
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Hyperactivity, Gingival overgrowth, Narrow palate, Conical incisor, Ol...	OMIM:235510
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cellulitis	ORPHA:2314
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Acute Myelomonocytic Leukemia	Abnormality of the gingiva, Weight loss	ORPHA:517
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, Aggressive behavior, High, n...	ORPHA:369950
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Hypophosphatemic Rickets, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration, Abnormality of the dentition	OMIM:193100
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
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
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Failure to thrive, Oral leukoplakia	OMIM:616353
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Diencephalic Syndrome	Everted lower lip vermilion, Cachexia, Decreased body weight	ORPHA:1672
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
Sotos Syndrome	Mandibular prognathia, Aggressive behavior, High, narrow palate, Narrow jaw, Narrow palate, Incre...	OMIM:117550
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
Emanuel Syndrome	Broad jaw, Inguinal hernia, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Con...	OMIM:609029
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Decreased iduronate sulfatase level, Inguinal hernia, Thick lower lip ...	OMIM:309900
Oslam Syndrome	Carious teeth	ORPHA:2760
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight	OMIM:266270
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Trismus, Jaundice...	ORPHA:39812
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Elevated circulating alkaline...	OMIM:615716
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Failure to thr...	OMIM:247200
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide mouth, Elevated circulating alk...	OMIM:618580
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Inguinal hernia, Cleft palate	OMIM:272460
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodon...	OMIM:300867
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Cachexia, High, narrow palate, Cleft palate, Short philtrum, ...	ORPHA:3242
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Long philtrum...	ORPHA:85201
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Interphalangeal joint contracture of finger,...	OMIM:305620
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Micrognathia, Flexion contracture, Gingival overgrowth, Narrow ...	OMIM:618186
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Polyphagia, Obesity	ORPHA:79443
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Selectiv...	ORPHA:2909
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Large for gestation...	ORPHA:77301
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Increased circulating lactate dehydrogenase concentration, Camptodactyly of fi...	OMIM:309000
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Weight loss, Tongue pain, Mandibular pain, Abnormal palate morphology	ORPHA:221098
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Decreased beta...	OMIM:253010
Ring Chromosome 10 Syndrome	Long philtrum, Thin vermilion border, Cachexia, Micrognathia	ORPHA:1438
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Lead Poisoning	Delayed eruption of teeth, Attention deficit hyperactivity disorder, Small for gestational age, A...	ORPHA:330015
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth...	OMIM:301072
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253000
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Failure to thrive, Lipoatrophy, Microgn...	OMIM:601812
Pulmonary Blastoma	Weight loss	ORPHA:64741
Treacher-Collins Syndrome	Branchial fistula, Failure to thrive, Abnormal dental morphology, Abnormal dental enamel morpholo...	ORPHA:861
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Fryns-Smeets-Thiry Syndrome	Cachexia, Micrognathia, Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Evert...	ORPHA:2058
Pfapa Syndrome	Weight loss, Abnormal oral cavity morphology	ORPHA:42642
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Downturned corners of mouth, Camptodactyly of finger, Cachexia, Micrognathia	ORPHA:2774
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ...	OMIM:209885
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Micrognathia, Supern...	OMIM:268400
Camurati-Engelmann Disease	Delayed eruption of teeth, Cachexia, Anorexia, Carious teeth, Abnormal subcutaneous fat tissue di...	ORPHA:1328
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Carpenter Syndrome 1	Omphalocele, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Obesity, Agen...	OMIM:201000
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Small for gestational ag...	ORPHA:666
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Failure to thrive	OMIM:615198
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma...	OMIM:101800
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Inflammatory Bowel Disease (Crohn Disease) 1	Aphthous ulcer, Recurrent aphthous stomatitis, Weight loss	OMIM:266600
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Pemphigus Vulgaris	Atypical scarring of skin, Weight loss, Abnormal oral cavity morphology	ORPHA:704
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:121300
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted te...	OMIM:311300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet...	ORPHA:2250
Hypophosphatasia, Infantile	Failure to thrive, Low alkaline phosphatase, Anorexia, Abnormality of the dentition	OMIM:241500
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Attention deficit hyperactivity disorder, Shagreen patch	OMIM:191100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Hyperactivity, Dental crowding, Impulsivity, Aggressive behavior, Carious teeth, Abn...	ORPHA:353281
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Idiopathic Achalasia	Dysphagia, Weight loss	ORPHA:930
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Anorexia, Weight loss	ORPHA:79430
Leishmaniasis	Elevated hepatic transaminase, Abnormal oral mucosa morphology, Anorexia, Weight loss, Abnormal o...	ORPHA:507
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Cachexia, Micrognathia, El...	ORPHA:371364
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cle...	OMIM:239300
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal...	ORPHA:221008
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d...	ORPHA:769
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
De Barsy Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Narrow mouth, High palate, Small, coni...	ORPHA:2962
Hallermann-Streiff Syndrome	Natal tooth, Hyperactivity, Small for gestational age, Selective tooth agenesis, Micrognathia, Hi...	OMIM:234100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Pitt-Hopkins Syndrome	Hiatus hernia, Aggressive behavior, Wide mouth, Self-injurious behavior, Thick vermilion border, ...	ORPHA:2896
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia, Reduced dihydrop...	ORPHA:1675
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Gorham-Stout Disease	Abnormality of the temporomandibular joint, Elevated alkaline phosphatase of bone origin, Abnorma...	ORPHA:73
Adnp Syndrome	Thin upper lip vermilion, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Thick ...	ORPHA:404448
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Abnormal dental morphology, D...	ORPHA:191
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration, Widely spaced teeth	OMIM:135100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Focal Dermal Hypoplasia	Omphalocele, Acute hepatic failure, Inguinal hernia, Abnormal dental morphology, Abnormal dental ...	ORPHA:2092
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Short philtrum, Widely spaced teeth, Elevated circulating aspartate am...	OMIM:280000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Panniculitis, Gingival overgrowth	ORPHA:508542
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Aggressive behavio...	OMIM:617799
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypop...	OMIM:166250
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Micrognathia, Knee flexion contracture, Elevated circulating alkaline phosphatas...	OMIM:156400
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture, Elevated hepatic transaminase	ORPHA:90324
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion, Hepatitis	ORPHA:1855
Xq12-Q13.3 Duplication Syndrome	Bulimia, Agitation, Everted lower lip vermilion, Low alkaline phosphatase	ORPHA:314389
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis	OMIM:602390
X-Linked Creatine Transporter Deficiency	Hyperactivity, Cachexia, Malar flattening, Open mouth, Self-mutilation	ORPHA:52503
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Micrognathia, Cleft palate, Too...	OMIM:309350
Johnson Neuroectodermal Syndrome	Carious teeth, Failure to thrive, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Natal tooth, Failure to thrive, Paranasal sinus hypoplasia, Dental crowding, Microgn...	OMIM:300373
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Small for gestational age, Abnormal dental enamel morphology, Abnormal...	ORPHA:221016
Tuberculosis	Weight loss	ORPHA:3389
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Abnormality of the tongue, Dysphagia, Weight loss	ORPHA:216866
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Inguinal hernia, Small for gestational age, Abnormality of the dentitio...	ORPHA:363611
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Median cleft lip, Abnormal dental enamel morphology, Accessory ora...	ORPHA:2750
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Elevated alkaline phosphatase of bone origin, Tooth abscess, Enthesitis	ORPHA:289176
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Cleft lip, Hypoplastic facial b...	OMIM:616300
Dubowitz Syndrome	Delayed eruption of teeth, Inguinal hernia, Hyperactivity, Micrognathia, Carious teeth, Velophary...	OMIM:223370
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia, Wide mouth, Thin vermilion border, Solitary median maxillary central...	ORPHA:217346
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Um...	OMIM:230740
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow...	OMIM:135500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Failure to thrive, Erosion of oral mucosa, Abnormal oral mucosa morphology	ORPHA:79404
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Weight loss	ORPHA:2221
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Failure to thrive, Persistence of primary ...	ORPHA:2785
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance...	OMIM:615873
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif...	OMIM:123790
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Small for gestational age, Delayed er...	OMIM:133540
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Downturned corners of mouth, Ele...	ORPHA:247262
X-Linked Agammaglobulinemia	Sinusitis, Hepatitis, Weight loss, Glossoptosis, Cellulitis, Failure to thrive	ORPHA:47
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Robinow Syndrome	Dental crowding, Small for gestational age, Persistence of primary teeth, Micrognathia, Dental ma...	ORPHA:97360
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Thick lo...	ORPHA:1465
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Paget Disease Of Bone 5, Juvenile-Onset	Elevated circulating alkaline phosphatase concentration, Premature loss of teeth, Failure to thri...	OMIM:239000
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Anorexia, Weight loss	ORPHA:100083
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Developmental And Epileptic Encephalopathy 95	Inguinal hernia, Multiple joint contractures, Deep philtrum, Gingival overgrowth, Low alkaline ph...	OMIM:618143
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Reduced leukocyte arylsulfatase B activity, Carious t...	OMIM:253200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase	OMIM:242880
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening	ORPHA:50945
Gm1 Gangliosidosis	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Narrow mouth, Gingival overgrowt...	ORPHA:354
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Incontinentia Pigmenti	Delayed eruption of teeth, Scarring, Conical tooth, Oligodontia, Hypodontia	OMIM:308300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Short philtrum...	OMIM:616801
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl...	OMIM:619503
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C...	ORPHA:534
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Downturned corners of mouth, Elevated ci...	OMIM:618548
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Chronic Hiccup	Abnormal eating behavior, Weight loss	ORPHA:396
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Obesity, Weight loss, Thin vermilion border, High ...	ORPHA:251071
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased...	OMIM:616829
Paget Disease Of Bone 2, Early-Onset	Elevated circulating alkaline phosphatase concentration, Premature loss of teeth	OMIM:602080
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Inguinal hernia, Elevated circulating aspartate aminotransferase c...	OMIM:619525
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den...	OMIM:180700
Wrinkly Skin Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, Small, con...	ORPHA:2834
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Boudin-Mortier Syndrome	Malar flattening, Elevated alkaline phosphatase of bone origin	OMIM:619543
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Carious teeth, Slender build	OMIM:131300
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he...	OMIM:122470
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Rett Syndrome	Stereotypical hand wringing, Bruxism, Cachexia, Abnormality of the dentition	OMIM:312750
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Cleft l...	ORPHA:2745
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ...	ORPHA:1519
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,...	ORPHA:353277
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Failure to thrive, Dental crowding, Abnormality ...	OMIM:618371
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Babesiosis	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Open bite...	ORPHA:85293
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Focal Dermal Hypoplasia	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Elevated hepatic transaminase, Sinusitis, Carious teeth, Oral ulcer, F...	ORPHA:811
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Carious teeth, High palate, Long p...	OMIM:278250
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Proximal Renal Tubular Acidosis	Failure to thrive, Enamel hypomineralization, Polydipsia	ORPHA:47159
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogeusia, Low alkaline phosphatase	OMIM:201100
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Microgn...	OMIM:614866
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Yao Syndrome	Oral ulcer, Weight loss	OMIM:617321
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Micrognathia, Large for gestational age, Pierre-Robin sequence, Flexion contract...	OMIM:300868
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal circulating enzyme concentration or activity, Carious teeth, Oral ulcer, Gingivitis, Del...	ORPHA:79259
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Cronkhite-Canada Syndrome	Anorexia, Hypogeusia, Cachexia, Furrowed tongue	ORPHA:2930
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Lobulated tongu...	OMIM:269860
Silver-Russell Syndrome	Dental crowding, Failure to thrive in infancy, Cachexia, Micrognathia, Obesity, Downturned corner...	ORPHA:813
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Weight loss	ORPHA:324964
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Micrognat...	OMIM:268310
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat...	ORPHA:235
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, High, narrow palate, Obesity, ...	ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, Macroglossia, Wide mouth, Distal arthrogryposis, Hi...	OMIM:618268
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Neutropenia, Pancreatitis, Anemia	ORPHA:79312
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate	OMIM:617925
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Fibrous Dysplasia Of Bone	Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho...	ORPHA:249
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Floating-Harbor Syndrome	Restlessness, Small for gestational age, Impulsivity, Persistence of primary teeth, Hypoplasia of...	ORPHA:2044
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Dysphagia, Weight loss	ORPHA:2198
Acrodermatitis Enteropathica	Anorexia, Cheilitis, Abnormality of the tongue, Furrowed tongue, Weight loss, Failure to thrive, ...	ORPHA:37
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Acute Promyelocytic Leukemia	Anorexia, Gingival overgrowth, Weight loss, Addictive alcohol use, Gingival bleeding, Stomatitis	ORPHA:520
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos...	ORPHA:263501
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Al Amyloidosis	Weight loss, Macroglossia, Elevated circulating alkaline phosphatase concentration, Dysphagia, Ab...	ORPHA:85443
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Abnormality of the temporomandibular joint, Flexion contracture, Enthesitis	ORPHA:85408
Felty Syndrome	Weight loss, Sinusitis, Cellulitis	ORPHA:47612
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Inguinal hernia, Failure to thrive in infancy, Micrognathia, Abnormali...	ORPHA:798
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Lathosterolosis	Elevated hepatic transaminase, Micrognathia, Intrahepatic cholestasis, Gingival overgrowth, Eleva...	OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas...	OMIM:619484
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth	ORPHA:667
Tetrasomy 9P	Hyperactivity, Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, M...	ORPHA:3310
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Dental crowding, Ankle flexion contracture, Micrognathia, Fle...	ORPHA:2020
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Portal hypertension, Micrognathia, Absence of subcutaneous fat, El...	OMIM:620005
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide mouth, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion, ...	OMIM:614207
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Dysphagia, Down...	OMIM:616268
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Bloom Syndrome	Malar flattening, Small for gestational age, Agenesis of maxillary lateral incisor	OMIM:210900
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration	OMIM:174050
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Reduced subcutaneous adipose tissue, Lipoatrophy, Small f...	OMIM:264090
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Schwartz-Jampel Syndrome	Micrognathia, High palate, Wrist flexion contracture, Long philtrum, Pursed lips, Supernumerary t...	ORPHA:800
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Enanthema, Hepatitis, Weight loss	ORPHA:139402
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion, Cleft palate	OMIM:614749
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Aggressive Systemic Mastocytosis	Portal hypertension, Anorexia, Weight loss, Elevated circulating alkaline phosphatase concentrati...	ORPHA:98850
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Parathyroid Carcinoma	Weight loss, Dysphagia, Lipoma, Polydipsia, Mandibular pain, Chondrocalcinosis	ORPHA:143
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Cachexia	ORPHA:157973
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
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognath...	ORPHA:2556
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormal primary molar morphology, Hypodontia, Microdontia, Failure to...	ORPHA:1830
Kindler Syndrome	Carious teeth, Gingivitis, Periodontitis, Dysphagia, Oral leukoplakia	OMIM:173650
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Camurati-Engelmann Disease, Type 2	Hip contracture, Elevated circulating alkaline phosphatase concentration, Knee flexion contracture	OMIM:606631
Congenital Tufting Enteropathy	Failure to thrive, Orofacial cleft, Weight loss	ORPHA:92050
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Metaphyseal Dysplasia, Braun-Tinschert Type	Advanced pneumatization of cranial sinuses, Elevated alkaline phosphatase of bone origin, Prematu...	ORPHA:85188
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Glossitis, Cachexia, Anorexia	OMIM:175500
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase	OMIM:254700
Isaacs Syndrome	Weight loss	ORPHA:84142
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C...	ORPHA:567
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:252920
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Cornelia De Lange Syndrome	Delayed eruption of teeth, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Downturne...	ORPHA:199
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Camptodactyly of finger, Flexion contracture, High palate, Widely spac...	OMIM:143095
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Small for gestational age, Hypoplasia of the nas...	ORPHA:93357
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he...	OMIM:135900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe...	OMIM:617093
Pleural Mesothelioma	Dysphagia, Weight loss	ORPHA:50251
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elevated circulating alkaline phosphatase concentration, High palate, Elbow contracture, Knee fle...	OMIM:618162
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Temporomandibular joint crepitus...	ORPHA:2388
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Large for gestational age, Increased body weight, Elevated circula...	ORPHA:263455
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Micrognathia, Submucous cleft hard palate, Temporomandibular...	OMIM:275210
Pseudomyxoma Peritonei	Hernia, Weight loss	ORPHA:26790
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Anorexia, Weight loss	ORPHA:65682
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration	OMIM:615424
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Specific Granule Deficiency 1	Low neutrophil alkaline phosphatase	OMIM:245480
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Meckel Syndrome, Type 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Mic...	OMIM:249000
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Dysphagia, Weight loss	ORPHA:183
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Imerslund-Gräsbeck Syndrome	Failure to thrive, Glossitis, Angular cheilitis, Weight loss	ORPHA:35858
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Huntington Disease-Like 2	Weight loss	OMIM:606438
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Cachexia, Abnormal lactate dehydrogenase level, Distal arthrogrypo...	ORPHA:42
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Dysphagia	OMIM:606170
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Dysphagia, Cachexia, Weight loss	ORPHA:298
Giant Cell Arteritis	Hepatic failure, Glossitis, Anorexia, Weight loss	ORPHA:397
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,...	ORPHA:77259
Restrictive Dermopathy	Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Submucous cleft ...	ORPHA:1662
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Omphalocele, Tented upper lip vermilion, Ing...	OMIM:601803
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration	OMIM:616833
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hernia, Weight loss	ORPHA:1842
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Micrognathia, Narrow palate, Long philtrum, Lipoma	ORPHA:109
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Jaundice, Autoimmune hemolytic anemia, Chronic lymphatic leukemia	ORPHA:90033
Graves Disease, Susceptibility To, 1	Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Mulibrey Nanism	Cachexia	ORPHA:2576
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Polycythemia Vera	Gingival bleeding, Portal hypertension, Weight loss	ORPHA:729
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Vitamin D-Dependent Rickets, Type 3	Elevated circulating alkaline phosphatase concentration	OMIM:619073
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilit...	ORPHA:2273
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Riboflavin Transporter Deficiency	Dysphagia, Cachexia, Aggressive behavior	ORPHA:97229
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Trisomy 18	Microretrognathia, Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexi...	ORPHA:3380
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Elevated circulating aspartate aminotransferase concentratio...	OMIM:227810
Eosinophilic Fasciitis	Fasciitis, Weight loss, Cellulitis	ORPHA:3165
Reticular Dysgenesis	Failure to thrive, Weight loss	ORPHA:33355
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Micrognathia...	OMIM:619841
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Moynahan Syndrome	Cachexia	ORPHA:2574
Isolated Succinate-Coq Reductase Deficiency	Weight loss, Knee flexion contracture	ORPHA:3208
Nijmegen Breakage Syndrome	Cachexia, Deep philtrum, Non-midline cleft lip, Cleft palate, Attention deficit hyperactivity dis...	ORPHA:647
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Granulomatosis With Polyangiitis	Sinusitis, Oral ulcer, Weight loss	OMIM:608710
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Wild Type Attr Amyloidosis	Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:330001
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Polymyositis	Anorexia, Elevated circulating aldolase concentration, Chondrocalcinosis, Weight loss	ORPHA:732
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Proteus Syndrome	Abnormal dental enamel morphology, Cachexia, Carious teeth, Abnormal subcutaneous fat tissue dist...	ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Elevated circulating alkaline phosphatase concentration, Failure to thrive	OMIM:600081
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Natal tooth, Thin upper lip vermilion, Failure to thrive, Li...	ORPHA:3455
Huntington Disease-Like 1	Restlessness, Weight loss	ORPHA:157941
Marfan Syndrome	Inguinal hernia, Dental crowding, Cachexia, Micrognathia, Open bite, High, narrow palate, Abnorma...	ORPHA:558
Johanson-Blizzard Syndrome	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Portal ...	OMIM:243800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Elevated circulating alkaline phosphatase concentration	ORPHA:529665
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism	OMIM:616028
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration	ORPHA:52430
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas...	OMIM:615895
Cystic Echinococcosis	Elevated hepatic transaminase, Jaundice, Weight loss, Elevated circulating alkaline phosphatase c...	ORPHA:400
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Fanconi-Bickel Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	ORPHA:2088
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Takayasu Arteritis	Anorexia, Weight loss	ORPHA:3287
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Elevated circulating alkaline phosphatase concentration, Failure to thrive	OMIM:241530
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Williams Syndrome	Micrognathia, Compulsive behaviors, Microdontia, Abnormal dental morphology, Abnormal dental enam...	ORPHA:904
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Downturned corners of mouth, Lower-limb joint contracture, Arthrogryposis multiplex ...	ORPHA:99885
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin	OMIM:167320
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele...	OMIM:619662
Glucagonoma	Anorexia, Intrahepatic cholestasis, Weight loss, Intermittent jaundice, Stomatitis, Glossitis, Su...	ORPHA:97280
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Inguinal hernia, Accessory oral frenulum, Large for gestational a...	ORPHA:672
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Small for...	ORPHA:69665
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Weight ...	ORPHA:100085
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening	OMIM:101400
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Epiphyseal Chondrodysplasia, Miura Type	Elevated alkaline phosphatase of bone origin	OMIM:615923
Riddle Syndrome	Chronic sinusitis, Recurrent sinusitis, Weight loss	ORPHA:420741
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Majeed Syndrome	Failure to thrive, Flexion contracture, Cachexia, Weight loss	ORPHA:77297
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Abnormality of alkaline phosphatase level	OMIM:300106
Microsporidiosis	Sinusitis, Anorexia, Cachexia, Hepatitis, Weight loss, Glossitis	ORPHA:2552
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice	OMIM:605479
Acute Monoblastic/Monocytic Leukemia	Increased circulating lactate dehydrogenase concentration, Anorexia, Weight loss	ORPHA:514
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Oculopharyngodistal Myopathy 1	High palate, Dysphagia, Weight loss	OMIM:164310
Rhabdoid Tumor	Weight loss	ORPHA:69077
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Weight loss	ORPHA:67
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration	OMIM:600785
Perry Syndrome	Weight loss	ORPHA:178509
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:605814
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Abnormality of the dentition, Aggres...	ORPHA:821
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Jaundice, Weight loss, E...	ORPHA:275761
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Anaplastic Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:142
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration	OMIM:615422
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Large for...	OMIM:616026
Holocarboxylase Synthetase Deficiency	Anorexia, Weight loss	ORPHA:79242
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Focal Myositis	Weight loss	ORPHA:48918
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepa...	OMIM:232220
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly	ORPHA:53715
Reynolds Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Lip telan...	OMIM:613471
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Ascites, Pancre...	OMIM:276700
Reactive Arthritis	Weight loss, Recurrent aphthous stomatitis, Enthesitis	ORPHA:29207
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Juvenile Amyotrophic Lateral Sclerosis	Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia	ORPHA:300605
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Anorexia, Oral ulcer, Weight loss, Enlargement of parotid gland, I...	ORPHA:50918
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Gingival overgrowth, Knee flexion contracture, Weight loss, Umb...	ORPHA:576
Secondary Short Bowel Syndrome	Failure to thrive, Polyphagia, Weight loss	ORPHA:95427
Inflammatory Pseudotumor Of The Liver	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	ORPHA:90003
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, Abnormal s...	ORPHA:2298
Refractory Celiac Disease	Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Weight loss	ORPHA:398063
Osteopetrosis, Autosomal Recessive 9	Elevated circulating alkaline phosphatase concentration	OMIM:620366
Gallbladder Neuroendocrine Tumor	Anorexia, Intermittent jaundice, Weight loss, Elevated gamma-glutamyltransferase level, Elevated ...	ORPHA:100086
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Anorexia, Weight loss	ORPHA:100080
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Jaundice, Anorexia, Weight loss	ORPHA:370348
Eosinophilic Gastroenteritis	Dysphagia, Weight loss	ORPHA:2070
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Portal hypertension, Weight loss, Failure to thrive, Self-mutilation	OMIM:619487
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Kaposi Sarcoma	Weight loss	ORPHA:33276
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level...	OMIM:613095
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Oral ulcer, Weight loss	OMIM:301074
Juvenile Polyposis Of Infancy	High, narrow palate, Cachexia, Subcutaneous lipoma, Narrow mouth	ORPHA:79076
Thymic Carcinoma	Weight loss	ORPHA:99868
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Elevated circulating alk...	ORPHA:84081
Fatal Familial Insomnia	Dysphagia, Weight loss	OMIM:600072
Branchiooculofacial Syndrome	Cleft upper lip, Micrognathia, Abnormality of the dentition, Lower lip pit, Cleft of chin, Elbow ...	OMIM:113620
Chronic Beryllium Disease	Weight loss	ORPHA:133
Ménétrier Disease	Anorexia, Weight loss	ORPHA:2494
Fanconi Anemia	Micrognathia, Aplasia/Hypoplasia of the uvula, Cleft palate, Weight loss, High palate, Umbilical ...	ORPHA:84
Medullary Thyroid Carcinoma	Dysphagia, Weight loss	ORPHA:1332
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration, Umbilical hernia, Inguinal hernia	OMIM:618188
Beta-Ketothiolase Deficiency	Oral aversion, Agitation, Anorexia, Weight loss	ORPHA:134
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Anorexia, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Anorexia, Weight loss	ORPHA:100082
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Bronchial Neuroendocrine Tumor	Hepatic failure, Anorexia, Weight loss	ORPHA:97287
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Polyarteritis Nodosa	Weight loss	ORPHA:767
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	OMIM:617156
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level	ORPHA:247691
Granulomatosis With Polyangiitis	Weight loss, Sinusitis, Abnormal oral cavity morphology	ORPHA:900
Bullous Pemphigoid	Weight loss	ORPHA:703
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:723
Cap Polyposis	Weight loss	ORPHA:160148
Lymphoid Interstitial Pneumonia	Failure to thrive, Abnormality of connective tissue, Weight loss	ORPHA:79128
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Rat-Bite Fever	Parotitis, Weight loss	ORPHA:31205
Fanconi Renotubular Syndrome 1	Elevated circulating alkaline phosphatase concentration	OMIM:134600
Liposarcoma	Weight loss	ORPHA:69078
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Lynch Syndrome	Flexion contracture, Attention deficit hyperactivity disorder, Weight loss	ORPHA:144
Symptomatic Form Of Hfe-Related Hemochromatosis	Chronic hepatic failure, Portal hypertension, Weight loss	ORPHA:465508
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Agitation...	ORPHA:94093
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Behçet Disease	Recurrent aphthous stomatitis, Oral ulcer, Anorexia, Weight loss	ORPHA:117
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Weight loss	ORPHA:54251
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Familial Colorectal Cancer Type X	Flexion contracture, Attention deficit hyperactivity disorder, Weight loss	ORPHA:440437
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Jaundice, Anorexia, Weight loss	ORPHA:20
Poems Syndrome	Lipodystrophy, Weight loss	ORPHA:2905
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate, Orofacial cleft, Agen...	OMIM:309800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Mirizzi Syndrome	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	ORPHA:521219
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Failure to thrive in infancy, Jaundice, Elevated circulating alkal...	ORPHA:247598
Late-Onset Isolated Acth Deficiency	Failure to thrive, Hepatitis, Anorexia, Weight loss	ORPHA:199299
Loeffler Endocarditis	Weight loss	ORPHA:75566
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Primary Biliary Cholangitis	Portal hypertension, Jaundice, Hepatitis, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia	ORPHA:206436
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Anorexia, Weight loss	OMIM:181000
Familial Glucocorticoid Deficiency	Failure to thrive, Anorexia, Weight loss	ORPHA:361
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatic failure, Anorexia, Weight loss	ORPHA:100075
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Agitation, Small for gestational age, Weight loss	ORPHA:424
Hereditary Late-Onset Parkinson Disease	Impulsivity, Agitation, Dysphagia, Weight loss	ORPHA:411602
Igg4-Related Aortitis	Weight loss	ORPHA:449400
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Ppoma	Anorexia, Intrahepatic cholestasis, Intermittent jaundice, Weight loss, Subcutaneous lipoma	ORPHA:97278
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Dysphagia, Polydipsia	ORPHA:537
Oncogenic Osteomalacia	Elevated circulating alkaline phosphatase concentration	ORPHA:352540
Igg4-Related Dacryoadenitis And Sialadenitis	Enlargement of parotid gland, Abnormal salivary gland morphology, Abnormality of the submandibula...	ORPHA:79078
Norrie Disease	Cachexia, Self-injurious behavior, Thin vermilion border, Attention deficit hyperactivity disorde...	ORPHA:649
Immunodeficiency 82 With Systemic Inflammation	Hepatitis, Oral ulcer, Anorexia, Weight loss	OMIM:619381
Nephroblastoma	Weight loss	ORPHA:654
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Jaundice, Anorexia, Weight loss	ORPHA:1333
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Whipple Disease	Polydipsia, Cachexia, Anorexia	ORPHA:3452
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Dysphagia, Cachexia, Weight loss	OMIM:603041
Rheumatoid Arthritis	Weight loss	OMIM:180300
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Weight loss	OMIM:256700
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Portal hypertensi...	OMIM:619534
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Igg4-Related Kidney Disease	Sialadenitis, Chronic sinusitis, Decreased liver function, Weight loss	ORPHA:449395
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ...	OMIM:124000
Q Fever	Elevated hepatic transaminase, Hepatitis, Anorexia, Weight loss	ORPHA:781
Somatostatinoma	Anorexia, Intrahepatic cholestasis, Intermittent jaundice, Weight loss, Subcutaneous lipoma	ORPHA:97283
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Dysphagia, Weight loss	ORPHA:36426
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Weight loss	ORPHA:85450
Osteootohepatoenteric Syndrome	Prolonged neonatal jaundice, Failure to thrive, Weight loss	OMIM:619377
Grfoma	Anorexia, Intrahepatic cholestasis, Intermittent jaundice, Weight loss, Subcutaneous lipoma	ORPHA:97261
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Vipoma	Anorexia, Intrahepatic cholestasis, Intermittent jaundice, Weight loss, Subcutaneous lipoma	ORPHA:97282
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Weight loss	ORPHA:747
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Weight loss	ORPHA:99819
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Dysphagia, Weight loss	ORPHA:1018
Caroli Syndrome	Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ...	ORPHA:480520
Acute Adrenal Insufficiency	Failure to thrive, Salt craving, Anorexia, Weight loss	ORPHA:95409
Carney-Stratakis Syndrome	Dysphagia, Weight loss	ORPHA:97286
Systemic Mastocytosis With Associated Hematologic Neoplasm	Elevated total serum tryptase, Weight loss	ORPHA:98849
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con...	ORPHA:562639
Solitary Fibrous Tumor	Weight loss	ORPHA:2126
Multiple Endocrine Neoplasia Type 1	Multiple lipomas, Gingival fibromatosis, Anorexia, Weight loss	ORPHA:652
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dysphagia, Weight loss	OMIM:607459
Klatskin Tumor	Jaundice, Weight loss	ORPHA:99978
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Simple Cryoglobulinemia	Viral hepatitis, Weight loss	ORPHA:91139
Alveolar Echinococcosis	Jaundice, Decreased liver function, Portal hypertension, Weight loss	ORPHA:284
Cushing Syndrome Due To Ectopic Acth Secretion	Dorsocervical fat pad, Anorexia, Intra-oral hyperpigmentation, Increased body weight, Weight loss...	ORPHA:99889
Zollinger-Ellison Syndrome	Lipoma, Multiple lipomas, Jaundice, Weight loss	ORPHA:913
Thymoma	Weight loss	ORPHA:99867
Renal Cysts And Diabetes Syndrome	Abnormality of alkaline phosphatase level, Elevated hepatic transaminase	OMIM:137920
Juvenile Dermatomyositis	Dysphagia, Weight loss	ORPHA:93672
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Sarcoidosis	Scarring, Portal hypertension, Weight loss, Enlargement of parotid gland, Decreased liver functio...	ORPHA:797
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Weight loss	ORPHA:49041
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase	ORPHA:785
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Hepatitis, Cachexia	ORPHA:37042
Erdheim-Chester Disease	Polydipsia, Weight loss	ORPHA:35687
Addison Disease	Failure to thrive, Salt craving, Anorexia, Weight loss	ORPHA:85138
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Hepatic failure, Weight loss	ORPHA:100078
Castleman Disease	Jaundice, Weight loss	ORPHA:160
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin	ORPHA:157215
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Anorexia, Flexion contracture, Weight loss, Dysphagia	ORPHA:99921
Nocardiosis	Weight loss, Anorexia, Cellulitis	ORPHA:31204
Cystinosis, Nephropathic	Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia	OMIM:219800
Dermatomyositis	Weight loss, Chondrocalcinosis, Cellulitis	ORPHA:221
Postinfectious Vasculitis	Viral hepatitis, Anorexia, Weight loss	ORPHA:48435
Juvenile Nephropathic Cystinosis	Polydipsia, Failure to thrive, Elevated alkaline phosphatase of bone origin	ORPHA:411634
Tropical Pancreatitis	Jaundice, Weight loss	ORPHA:103918
Pancreatoblastoma	Jaundice, Weight loss	ORPHA:677
Aicardi-Goutieres Syndrome 7	Hepatitis, Weight loss	OMIM:615846
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Familial Thrombocytosis	Weight loss	ORPHA:71493
Brucellosis	Failure to thrive, Small for gestational age, Anorexia, Weight loss	ORPHA:1304
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase	OMIM:608232
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Estrogen Resistance	Elevated alkaline phosphatase of bone origin	OMIM:615363
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Immunodeficiency 31C	Weight loss	OMIM:614162
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Multiple Myeloma	Weight loss	ORPHA:29073
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Pyomyositis	Weight loss	ORPHA:764
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Anorexia, Weight loss	ORPHA:91500
Malt Lymphoma	Weight loss	ORPHA:52417
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Cachexia	ORPHA:2072
African Trypanosomiasis	Jaundice, Aggressive behavior, Weight loss	ORPHA:3385
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Weight loss	ORPHA:90794
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Generalized Arterial Calcification Of Infancy	Failure to thrive in infancy, Elevated alkaline phosphatase of bone origin	ORPHA:51608
Goodpasture Syndrome	Weight loss	OMIM:233450
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

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 Tnn

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 Tnn.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Pivotal Role of Tenascin-W (-N) in Postnatal Incisor Growth and Periodontal Ligament Remodeling.	Frontiers in immunology (January 2020)	Tnn^{tm1a(KOMP)Wtsi}	PMC7862723
Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice.	Genesis (New York, N.Y. : 2000) (July 2013)	Tnnt3^{tm2a(KOMP)Wtsi}	PMC3787964

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

MGI Allele	Allele Type	Produced
Tnn^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Tnn^em1(IMPC)Mbp	Intra-exon deletion	Mice
Tnn^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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Gene: Tnn MGI:2665790

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Tnn mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data