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Gene: Krt5 MGI:96702

Gene Summary

Name:

keratin 5

Synonyms:

Krt2-5, 3300001P10Rik, K5, Tfip8

Order Alleles

IMPC Data Collections

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	P Value
preweaning lethality, complete penetrance	Krt5^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Krt5^{tm1.1(KOMP)Vlcg}	HOM	Early adult	0.00
abnormal lymph node morphology	Krt5^{tm1.1(KOMP)Vlcg}	HET	Early adult	0.00
decreased body length	Krt5^{tm1.1(KOMP)Vlcg}	HET	Early adult	1.93×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Duodenum	Section images	heterozygote	50% (1 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Harderian gland	Section images	heterozygote	100% (2 of 2)
Ileum	Section images	heterozygote	50% (1 of 2)
Jejunum	Section images	heterozygote	50% (1 of 2)
Kidney	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Parotid gland	Section images	heterozygote	100% (2 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Prostate gland	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Spinal cord	Section images	heterozygote	50% (1 of 2)
Spleen	Section images	heterozygote	50% (1 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Sublingual gland	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Thymus	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Vagina	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Vesicular gland	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cecum	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Colon	N/A	heterozygote	0.0% (0 of 2)
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	Not available
Mesenteric adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	50% (1 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Brain	N/A	heterozygote	33.33% (2 of 6)
Brain	N/A	homozygote	Ambiguous
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Ear	N/A	heterozygote	33.33% (2 of 6)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	100% (6 of 6)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	33.33% (2 of 6)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	33.33% (2 of 6)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	33.33% (2 of 6)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	33.33% (2 of 6)
Forelimb	N/A	homozygote	Ambiguous
Gut	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Handplate	N/A	heterozygote	33.33% (2 of 6)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	33.33% (2 of 6)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	33.33% (2 of 6)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	33.33% (2 of 6)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	33.33% (2 of 6)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	33.33% (2 of 6)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	33.33% (2 of 6)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	33.33% (2 of 6)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	33.33% (2 of 6)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	33.33% (2 of 6)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Oral cavity	N/A	heterozygote	33.33% (2 of 6)
Oral cavity	N/A	homozygote	Ambiguous
Skeleton	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Skin	N/A	heterozygote	33.33% (2 of 6)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Tail somite	N/A	heterozygote	33.33% (2 of 6)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	33.33% (2 of 6)
Tail	N/A	homozygote	Ambiguous
Trachea	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Urinary system	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

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 Skull Lateral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

32 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Section

86 Images

View images

X-ray

XRay Images Forepaw

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images

X-ray

XRay Images Hind Leg and Hip

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Human diseases caused by Krt5 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 Krt5 (13 diseases)
Human diseases predicted to be associated with Krt5 (676 diseases)

The table below shows human diseases associated to Krt5 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Epidermolysis Bullosa Simplex 2A, Generalized Severe	Palmoplantar blistering, Palmoplantar hyperkeratosis, Oral mucosal blisters	OMIM:619555
Epidermolysis Bullosa Simplex 2B, Generalized Intermediate	Palmoplantar blistering	OMIM:619588
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Hyperkeratosis, Palm...	ORPHA:79399
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Death in childhood, Death in infancy, Oral mucosal blisters, Mitten deformity	OMIM:619599
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosi...	ORPHA:79397
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Dowling-Degos Disease	Abnormality of the hand, Palmar pits, Hyperkeratosis, Anal margin squamous cell carcinoma, Hyperk...	ORPHA:79145
Localized Epidermolysis Bullosa Simplex	Erosion of oral mucosa, Plantar hyperkeratosis, Oral mucosal blisters, Focal friction-related pal...	ORPHA:79400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters	ORPHA:158681
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Punctate palmoplantar hyperkeratosis	OMIM:131960
Epidermolysis Bullosa Simplex 2C, Localized	Palmoplantar blistering	OMIM:619594
Dowling-Degos Disease 1		OMIM:179850
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema		OMIM:609352

The table below shows human diseases predicted to be associated to Krt5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Gastric Cancer	Stomach cancer	OMIM:613659
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Talipes equinovar...	ORPHA:496689
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Kerion Celsi	Lymphadenopathy	ORPHA:499
Plummer-Vinson Syndrome	Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web,...	ORPHA:54028
Hartnup Disorder	Hyperactivity, Glossitis, Attention deficit hyperactivity disorder	OMIM:234500
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum...	OMIM:227270
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo...	OMIM:616029
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Catel-Manzke Syndrome	Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2nd finger, Cleft palate, Glo...	ORPHA:1388
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate	ORPHA:141152
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia	OMIM:612138
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy	OMIM:614876
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:613435
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Hyperkera...	ORPHA:530
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Epidermolysis Bullosa Simplex 2A, Generalized Severe	Palmoplantar blistering, Palmoplantar hyperkeratosis, Oral mucosal blisters	OMIM:619555
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Narrow mouth, Esophageal stricture, Dy...	OMIM:226600
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology	ORPHA:166100
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Accessory oral frenulum, Cleft palate...	OMIM:258860
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior	ORPHA:216873
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Attention deficit hyperactivity disorder, Abnormal stomach morphology	ORPHA:281090
Auriculocondylar Syndrome 2A	Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo...	OMIM:614669
Whistling Face Syndrome, Recessive Form	Narrow mouth, Whistling appearance, Elbow flexion contracture, Ulnar deviation of finger, High pa...	OMIM:277720
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamar...	ORPHA:2930
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Enamel hypoplasia	OMIM:226700
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Facioscapulohumeral Muscular Dystrophy 1	Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy, Dysphagia	OMIM:158900
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe...	OMIM:617127
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Brachydactyly	ORPHA:2928
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners...	OMIM:613443
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Epilepsy, Progressive Myoclonic, 9	Short thumb, Microglossia	OMIM:616540
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus	OMIM:616155
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ...	OMIM:618779
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Abnormality of the hand, Furrowed tongue, Ulnar dev...	ORPHA:1387
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Hereditary Mucoepithelial Dysplasia	Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Hyperkeratosis	ORPHA:1839
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, 2-3 toe syndactyly, Narro...	ORPHA:313892
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Single transverse palmar crease, Pierre-Robin sequence, Glossoptosis, H...	OMIM:613604
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia...	OMIM:192445
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Mohr Syndrome	Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ...	OMIM:252100
Fg Syndrome 3	Death in infancy, Hyperactivity, Broad hallux, Pyloric stenosis, Broad thumb	OMIM:300406
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef...	OMIM:620269
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of...	OMIM:175500
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Genu val...	OMIM:300602
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C...	OMIM:620107
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli...	OMIM:615726
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor...	ORPHA:2494
Trisomy 18P	High, narrow palate, Pyloric stenosis, Abnormal finger morphology, Thin vermilion border, Attenti...	ORPHA:1715
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis, Short 5th finger, Bilatera...	OMIM:133705
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Clinodactyly, Radial deviation of finger	OMIM:188025
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Dysphagia, ...	ORPHA:89842
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Noonan Syndrome 7	Deep palmar crease, Thick vermilion border, Dysphagia, Impaired oropharyngeal swallow response, C...	OMIM:613706
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton...	ORPHA:2001
Joubert Syndrome 18	Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, Talipes equinova...	OMIM:614815
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop...	ORPHA:79409
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Adams-Oliver Syndrome 6	Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly	OMIM:616589
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal widening, Cleft palat...	ORPHA:440354
Bronchogenic Cyst	Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Cleft...	OMIM:241800
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Mitten def...	OMIM:609638
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Micr...	OMIM:258850
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Limited elbow movement, Narrow mouth, Calcaneovalgus deformity, Elbow flexion con...	OMIM:615065
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi...	ORPHA:1307
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac...	OMIM:614262
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum, Narrow mouth...	ORPHA:96184
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Epidermolysis Bullosa Simplex 2B, Generalized Intermediate	Palmoplantar blistering	OMIM:619588
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition	OMIM:616553
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ...	OMIM:314390
Cholesteryl Ester Storage Disease	Esophageal varix	ORPHA:75234
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal...	OMIM:613091
Orofaciodigital Syndrome Type 2	Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn...	ORPHA:2751
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Clinodactyly of the 5th finger, Pyloric stenosis, Talipes equinovarus, Tapered finger	OMIM:617219
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Hyperextensibility of the finger joints, Glossoptosis, Cleft palate, Aggressive behavior	OMIM:618356
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Intestinal malrotation, Hiatus hernia, Abnormality of the hume...	ORPHA:2538
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Feingold Syndrome	Hallux valgus, Toe syndactyly, Esophageal atresia, Deviation of the 2nd finger, Orofacial cleft, ...	ORPHA:1305
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac...	OMIM:619148
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact...	ORPHA:59315
Microcephalic Primordial Dwarfism, Montreal Type	Open bite, Abnormal palate morphology, Carious teeth, Congenital pyloric atresia	ORPHA:2617
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Postaxial polydactyly, Esophageal varix, Hyperkeratosis, Inflammation of the la...	OMIM:614576
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u...	OMIM:200990
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Enamel h...	OMIM:226730
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, Thin upper lip vermilion, High palate	ORPHA:314575
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Angelman Syndrome Due To A Point Mutation	Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced teeth, I...	ORPHA:411511
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Phosphoribosylaminoimidazole Carboxylase Deficiency	Esophageal atresia, Tracheoesophageal fistula, Talipes equinovarus, Neonatal death, Clinodactyly ...	OMIM:619859
Charcot-Marie-Tooth Disease, Type 4C	Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy	OMIM:601596
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Carious teeth, Palmoplantar hyperkeratosis, Gingivitis, Perio...	OMIM:173650
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Cleft palate, Orofacial cleft, Deep palmar crease...	ORPHA:1752
Immunodeficiency 12	Esophageal stricture, Clubbing, Cheilitis, Death in adolescence, Recurrent aphthous stomatitis	OMIM:615468
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit...	ORPHA:90291
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierre-Robin sequence, ...	ORPHA:1358
Hypoglossia With Situs Inversus	Microglossia, High palate, Hypodontia, Narrow mouth	OMIM:612776
Kleefstra Syndrome 1	Natal tooth, Single transverse palmar crease, Protruding tongue, Aggressive behavior, Persistence...	OMIM:610253
Hypoglossia-Hypodactylia	Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia	OMIM:103300
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Thin upper lip vermilion, Aggressive behavior, Diastema, Furrowed to...	OMIM:300534
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,...	ORPHA:870
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Abnormality of the elbow, Palmoplantar hyperkeratosis	ORPHA:158673
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi...	ORPHA:137888
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnorma...	ORPHA:2759
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft...	OMIM:277170
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve...	OMIM:612938
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L...	OMIM:615559
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe...	ORPHA:1018
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab...	ORPHA:2167
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia, Acha...	OMIM:615510
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma...	OMIM:300048
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy	OMIM:603552
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Dental crowding, Single tra...	ORPHA:93932
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Tapered finger, Protruding tongue, Wide mouth, High...	OMIM:618580
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix	OMIM:617341
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy	OMIM:620285
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow palate, Abnormal ...	ORPHA:436003
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Gastrointestinal dysmotility, Abnormal tongue morphology, Polydactyly	ORPHA:531151
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Hyperactivity, Sandal gap, Broad hallux, Dental crowding, Aggressive be...	OMIM:616078
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda...	ORPHA:1507
Portal Hypertension, Noncirrhotic, 2	Esophageal varix, Hepatocellular carcinoma	OMIM:619463
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microdontia, Microglossia	OMIM:606744
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Split hand, Hypoplas...	ORPHA:958
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Pyloric stenosis, Small hand,...	ORPHA:1001
Psoriasis 14, Pustular	Parakeratosis, Geographic tongue, Furrowed tongue	OMIM:614204
Non-Syndromic Posterior Hypospadias	Esophageal atresia, Anal atresia, Cleft palate	ORPHA:95706
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Hyperkeratosis, Palm...	ORPHA:79399
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Wolman Disease	Esophageal varix, Steatorrhea	ORPHA:75233
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, C...	ORPHA:261330
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal...	ORPHA:974
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad...	OMIM:305450
Lelis Syndrome	Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue	ORPHA:140936
Cowden Syndrome 5	Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ...	OMIM:615108
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:276198
Congenital Disorder Of Glycosylation, Type Iig	Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Single transverse palmar crease, Narrow mo...	OMIM:611209
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes...	ORPHA:131
Otospondylomegaepiphyseal Dysplasia	Short metacarpal, Sandal gap, Cleft palate, Tibial bowing, Glossoptosis, Fibular bowing, Limb und...	ORPHA:1427
Marden-Walker Syndrome	Arachnodactyly, High, narrow palate, Pyloric stenosis, Narrow mouth, Cleft palate, Radioulnar syn...	OMIM:248700
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Flared metaphysis, Glossoptosis, Delayed ossification of carpal bones, Aplasia/hyp...	ORPHA:93346
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:614153
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia	ORPHA:98795
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Smooth philtrum, Single transverse palmar crease, Tapered finger, Protruding tongue, Broad palm, ...	OMIM:617804
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe...	OMIM:257980
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely ...	ORPHA:98794
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Dental malocclusion, Hypodontia, Microglossia, ...	OMIM:253250
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations	OMIM:614678
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl...	ORPHA:2752
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Proximal placement of thumb, Protruding tongue, Coxa valga, Aggressive behavior, Dia...	OMIM:212066
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, ...	ORPHA:464738
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ...	ORPHA:193
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Absent thumb	OMIM:615272
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Abnormality of the tongue, Cheilitis, Furrowed tongue, Glossitis	ORPHA:37
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Preaxial polydact...	OMIM:616300
Ring Chromosome 22 Syndrome	Protruding tongue, 2-3 toe syndactyly, Large hands, Inappropriate behavior, Thick vermilion border	ORPHA:1446
Distal Deletion 12Q	Single transverse palmar crease, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of...	ORPHA:96149
Ornithine Transcarbamylase Deficiency	Pyloric stenosis	ORPHA:664
Apert Syndrome	Limited elbow movement, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, Bifid uvu...	OMIM:101200
Cleidocranial Dysplasia	Delayed eruption of teeth, Abnormal dental enamel morphology, Tapered finger, Abnormal thumb morp...	ORPHA:1452
Cowden Syndrome 6	Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ...	OMIM:615109
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea...	OMIM:617925
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,...	OMIM:618106
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Myopathy, Myofibrillar, 7	Tongue atrophy, Elbow flexion contracture, Talipes equinovarus, Dysphagia	OMIM:617114
Msh3-Related Attenuated Familial Adenomatous Polyposis	Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop...	ORPHA:480536
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atresia, Deep philtrum, Cleft ...	OMIM:610536
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental...	ORPHA:2750
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perman...	OMIM:616894
Septo-Optic Dysplasia Spectrum	Esophageal atresia, Polydipsia, Tracheoesophageal fistula, Cleft palate	ORPHA:3157
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma	ORPHA:64743
Orofaciodigital Syndrome I	Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ...	OMIM:311200
Glycogen Storage Disease Iv	Esophageal varix	OMIM:232500
Apert Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi...	ORPHA:87
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact...	OMIM:619580
Hereditary Folate Malabsorption	Glossitis, Gastroesophageal reflux, Cheilitis, Anorexia	ORPHA:90045
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han...	OMIM:268310
Methimazole Embryofetopathy	Esophageal atresia, Tracheoesophageal fistula	ORPHA:1923
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Elbow flexion contracture, Tongue fasciculations, Dysphagia	OMIM:619461
Fanconi Anemia, Complementation Group B	Death in infancy, Absent thumb, Esophageal atresia, Tracheoesophageal fistula, Bilateral radial a...	OMIM:300514
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia	OMIM:224230
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Tongue atrophy, Dysphagia, Tongue fasciculations, Death in childhood	OMIM:211530
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp...	OMIM:619227
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu...	OMIM:616449
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Kinsship Syndrome	Thin upper lip vermilion, Death in infancy, Single transverse palmar crease, Coxa valga, Abnormal...	OMIM:619297
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip and palate, Median cleft lip, Intestinal malrotation, Hamartoma of ...	OMIM:269860
Adams-Oliver Syndrome 5	Syndactyly, Esophageal varix, Brachydactyly	OMIM:616028
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s...	ORPHA:3138
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia, Short...	OMIM:601559
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t...	OMIM:161700
Aspergillosis	Abnormal esophagus morphology	ORPHA:1163
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec...	ORPHA:1199
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia	ORPHA:779
Maternal Phenylketonuria	Hyperactivity, Bifid distal phalanx of the thumb, Esophageal atresia, High palate, Long philtrum,...	ORPHA:2209
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca...	ORPHA:90652
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Mandibuloacral Dysplasia	Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Osteolytic defects...	ORPHA:2457
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat...	OMIM:180700
Angelman Syndrome	Abnormality of the gastrointestinal tract, Hyperactivity, Protruding tongue, Aggressive behavior,...	ORPHA:72
Familial Melanoma	Neoplasm of the stomach	ORPHA:618
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Koolen-De Vries Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow pal...	ORPHA:96169
Classic Homocystinuria	Gastrointestinal hemorrhage, Arachnodactyly, Dental crowding, Anorexia, Esophageal varix, Genu va...	ORPHA:394
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Carey-Fineman-Ziter Syndrome 1	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Pectoralis hypoplasia, High pa...	OMIM:254940
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ...	OMIM:608670
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi...	ORPHA:2886
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Short middle phalanx of the 2nd finger, Short thumb, 4-5 toe syn...	ORPHA:391641
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Cleft palate, Narrow mouth	OMIM:202650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Premature ...	ORPHA:2907
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, M...	OMIM:250250
Fryns Syndrome	Meckel diverticulum, Tented upper lip vermilion, Aganglionic megacolon, Single transverse palmar ...	OMIM:229850
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis...	OMIM:277380
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Conical tooth, Cleft upper lip, Short thumb, Pyloric stenosis...	OMIM:263750
Muir-Torre Syndrome	Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Coach Syndrome 1	Wide mouth, Postaxial hand polydactyly, Esophageal varix	OMIM:216360
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:1790
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Dyskeratosis Congenita, Autosomal Dominant 2	Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis, Abnormality of the dentition	OMIM:613989
Dyskeratosis Congenita	Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Anorectal anomal...	ORPHA:1775
Benign Schwannoma	Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology, Abnormal ...	ORPHA:252164
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Raine Syndrome	Natal tooth, Bowing of the long bones, Death in infancy, Micromelia, Protruding tongue, Gingival ...	OMIM:259775
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, R...	ORPHA:101085
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Kleefstra Syndrome	Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavi...	ORPHA:261494
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog...	OMIM:618874
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Cleft upper lip, N...	OMIM:616145
Cowden Syndrome 1	Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ...	OMIM:158350
Van Esch-O'Driscoll Syndrome	Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mou...	OMIM:301030
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc...	ORPHA:512
Gracile Bone Dysplasia	Death in infancy, Ankyloglossia, Flared metaphysis, Brachydactyly	OMIM:602361
Heme Oxygenase 1 Deficiency	Asplenia, Cervical lymphadenopathy, Lymphadenopathy	OMIM:614034
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Protruding tongue	OMIM:242860
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, High palate, Foot polydactyly...	ORPHA:250989
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	U-Shaped upper lip vermilion, Coxa valga, Tapered finger, Protruding tongue, Diastema, Thick lowe...	OMIM:301040
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Coxa valga, Narrow mouth, Gingival overgrowth, Dysphagia, Limb undergrowth	OMIM:230600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Hypomandibular Faciocranial Dysostosis	Pursed lips, Aglossia	OMIM:241310
Cousin Syndrome	Rhizomelia, 4-5 toe syndactyly, Humeroradial synostosis, Microglossia, 2-3 toe syndactyly, Cleft ...	OMIM:260660
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig...	ORPHA:457279
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Do...	OMIM:122470
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Gastroesophageal reflux, Widely spaced teeth, Short 4th toe, Co...	OMIM:615873
Cholesteryl Ester Storage Disease	Death in infancy, Esophageal varix, Steatorrhea	OMIM:278000
Icf Syndrome	Macroglossia, Malabsorption, Protruding tongue	ORPHA:2268
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Furrowed tongue, Hyperkeratosis, Microdontia, Oral leukoplakia	OMIM:148210
Feingold Syndrome 1	Jejunal atresia, Short thumb, Short toe, 4-5 toe syndactyly, Esophageal atresia, 2-3 toe syndacty...	OMIM:164280
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater...	OMIM:614083
Angelman Syndrome	Hyperactivity, Protruding tongue, Wide mouth, Macroglossia, Widely spaced teeth, Paroxysmal burst...	OMIM:105830
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Protruding tong...	OMIM:214100
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Gastroesophageal reflux, Advanced eruption of teeth, Finger syndacty...	ORPHA:818
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Frontometaphyseal Dysplasia 2	Short metacarpal, Ulnar deviation of the hand, Pyloric stenosis, Deep philtrum, Pierre-Robin sequ...	OMIM:617137
Proximal 16P11.2 Microdeletion Syndrome	Pyloric stenosis, Cleft palate, Hand polydactyly, Gastroesophageal reflux, Attention deficit hype...	ORPHA:261197
X-Linked Agammaglobulinemia	Glossoptosis, Malabsorption	ORPHA:47
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Cleft palate, Furrowed t...	ORPHA:453499
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Cerebrocostomandibular Syndrome	Short humerus, Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence,...	OMIM:117650
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Cleft palate, Downturned...	OMIM:616580
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Gastroesophageal reflux, Protruding tongue	OMIM:614325
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix, Neonatal death	OMIM:263200
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Protruding tongue, Abnorm...	OMIM:200600
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:352665
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Mirage Syndrome	Rocker bottom foot, Radial club hand, Esophageal stricture, Gastroesophageal reflux, Talipes equi...	OMIM:617053
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Single transverse palmar crease, Protruding tongue, Bilateral camptod...	OMIM:619777
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Protruding tongue	ORPHA:53351
Robinow Syndrome	Dental crowding, Orofacial cleft, Syndactyly, Persistence of primary teeth, Mesomelic arm shorten...	ORPHA:97360
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxi...	OMIM:263520
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Esophageal varix	ORPHA:367
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe syndactyly, Small han...	ORPHA:488642
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy	OMIM:603909
Frontorhiny	Camptodactyly of finger, Cleft palate, Finger clinodactyly, Bifid tongue, Brachydactyly	ORPHA:391474
Spondyloepiphyseal Dysplasia Congenita	Short femur, Limited elbow movement, Upper limb undergrowth, Cleft palate, Genu valgum, Glossopto...	ORPHA:94068
Trisomy 18	Camptodactyly of finger, Esophageal atresia, Postaxial hand polydactyly, Non-midline cleft lip, C...	ORPHA:3380
Autosomal Dominant Robinow Syndrome	Micromelia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of mou...	ORPHA:3107
Marshall-Smith Syndrome	Bowing of the long bones, Gingival overgrowth, Open mouth, Protruding tongue	ORPHA:561
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Protruding tongue, High ...	OMIM:617062
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Dysphag...	ORPHA:79408
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Nephroblastoma	Lymphadenopathy	ORPHA:654
Cirrhosis, Familial	Esophageal varix	OMIM:215600
Juvenile Sialidosis Type 2	Gingival overgrowth, Dysphagia, Protruding tongue	ORPHA:93399
Leishmaniasis	Splenomegaly, Lymphadenopathy	ORPHA:507
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Stereotypical hand wringing, Protruding tongue	OMIM:619179
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Death in childhood, Death in infancy, Oral mucosal blisters, Mitten deformity	OMIM:619599
Joubert Syndrome 1	Hyperactivity, Protruding tongue, Aggressive behavior, Postaxial hand polydactyly, Postaxial foot...	OMIM:213300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Tracheoesophageal fistula	ORPHA:77298
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Areflexia of upper...	ORPHA:99956
Senior-Boichis Syndrome	Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd...	ORPHA:84081
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Self-mutilation, L...	ORPHA:1051
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Cholestasis, Progressive Familial Intrahepatic, 8	Esophageal varix	OMIM:619662
Developmental And Epileptic Encephalopathy 31B	Choking episodes, Gingival overgrowth, Protruding tongue	OMIM:620352
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Glossoptosis	ORPHA:2031
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Marshall-Smith Syndrome	Hallux valgus, Eclabion, Irregular dentition, Short mandibular rami, Bullet-shaped middle phalang...	OMIM:602535
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm...	ORPHA:861
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroesophageal reflux, Short p...	OMIM:619950
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Chronic Granulomatous Disease	Pyloric stenosis, Tracheoesophageal fistula, Gingivitis, Malabsorption	ORPHA:379
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Lymphadenopathy	OMIM:308240
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, High, narrow palate...	ORPHA:3472
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Thick vermilion border, Gastroesophageal reflux, Narrow mout...	OMIM:608779
Griscelli Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Myoectodermal Gonadal Dysgenesis Syndrome	Smooth philtrum, Single transverse palmar crease, Bifid distal phalanx of the thumb, Pyloric sten...	OMIM:618419
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Pyloric stenosis, Tibial bowing, G...	OMIM:613848
Cerebrocostomandibular Syndrome	Death in infancy, Cleft palate, Glossoptosis, Clinodactyly of the 5th finger, Short hard palate	ORPHA:1393
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Hepatosplenomegaly	OMIM:619644
Distal Deletion 15Q	Thin upper lip vermilion, Single transverse palmar crease, Abnormality of the dentition, 2-3 toe ...	ORPHA:1596
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Mucoepithelial Dysplasia, Hereditary	Melena, Erythematous oral mucosa, Follicular hyperkeratosis, Furrowed tongue	OMIM:158310
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Intestinal malrotation...	ORPHA:2308
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Small hand, ...	ORPHA:2108
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosi...	ORPHA:79397
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Esophageal stricture, Acantholysis, Dysphagia	ORPHA:36426
Caroli Disease	Cholangiocarcinoma, Esophageal varix, Anorexia	ORPHA:53035
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Gastroesophage...	OMIM:309580
Arima Syndrome	Postaxial hand polydactyly, Esophageal varix, Postaxial foot polydactyly, Wide mouth, Polydipsia	OMIM:243910
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Anal atresia, Persistent cloaca	OMIM:615709
Chronic Graft Versus Host Disease	Anorexia, Esophageal stricture, Xerostomia, Abnormal esophagus morphology, Gastroesophageal reflu...	ORPHA:99921
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:151050
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroint...	OMIM:270400
Meckel Syndrome, Type 1	Smooth philtrum, Syndactyly, Bowing of the long bones, Thin upper lip vermilion, Natal tooth, Cam...	OMIM:249000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Cleft lip, Furrowed tongue, High palate, Gastroesophageal reflux, Attention deficit h...	OMIM:616975
Opitz Gbbb Syndrome	Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High palate, Hypod...	ORPHA:2745
Immunodeficiency 23	Esophageal stricture, High palate	OMIM:615816
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Severe periodontitis, Protruding tongue, Long upper lip, Deep philtrum, Broad pa...	ORPHA:99843
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Esophageal varix, Hepatocellular adenoma	ORPHA:264580
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy	ORPHA:160
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co...	ORPHA:201
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Narrow mouth	ORPHA:990
Orofaciodigital Syndrome Type 14	Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory oral frenulum, Postaxial ha...	ORPHA:434179
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Gabriele-De Vries Syndrome	Hallux valgus, Abnormality of upper lip vermillion, Sydney crease, Sandal gap, Oral-pharyngeal dy...	ORPHA:506358
Down Syndrome	Sandal gap, Single transverse palmar crease, Aganglionic megacolon, Protruding tongue, Broad palm...	OMIM:190685
Lymphoproliferative Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:613011
Felty Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Cinca Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:1451
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo...	ORPHA:2136
Giant Cell Arteritis	Gastrointestinal infarctions, Glossitis, Anorexia	ORPHA:397
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Protruding tongue, Flared me...	ORPHA:50945
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater...	OMIM:301068
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters, Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Aphthous ulcer, Agitation, Esophageal varix, Oral ulcer	OMIM:615688
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Vacterl With Hydrocephalus	Esophageal atresia, Hypoplasia of the radius, Tracheoesophageal fistula, Anal atresia	ORPHA:3412
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue	ORPHA:96147
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage	ORPHA:774
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Dental crowding, Single transverse palmar crease, Deep p...	OMIM:619503
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Orofaciodigital Syndrome Xiv	Natal tooth, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial hand polydactyly, Supernumer...	OMIM:615948
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, Cleft palate, N...	OMIM:265380
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ...	OMIM:619472
Legionnaires Disease	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Hammertoe, Tongue fasciculations, Tongue atrophy	ORPHA:99949
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Downturned corners of mouth, High palate, Gastroesophage...	ORPHA:199
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Degcags Syndrome	Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Syndactyly, Hiatus hernia, Short...	OMIM:619488
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, High, narrow palate, High palate, Tics, Compulsive behaviors, Sh...	OMIM:619475
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:158061
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Abnormal gastrointestinal motility...	ORPHA:97280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Flexion contracture of finger, Tongue atrophy, Hand musc...	ORPHA:466768
Wilson Disease	Esophageal varix, Dysphagia, Hepatocellular carcinoma	OMIM:277900
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Protruding tongue, Macroglossia, Gastroesophageal reflux, Dysphagia, Open mouth	ORPHA:258
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Stickler Syndrome	Arachnodactyly, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Genu...	ORPHA:828
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Abnormality of the dentition, Meta...	ORPHA:3206
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Esophageal varix, Protein-losing ent...	ORPHA:731
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Cleft upper lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Esophageal at...	ORPHA:93271
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy	ORPHA:540
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:610377
Fontaine Progeroid Syndrome	Syndactyly, Thin upper lip vermilion, Death in infancy, Protruding tongue, High, narrow palate, A...	OMIM:612289
Fraser Syndrome	Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Death in infancy, Cleft upper ...	ORPHA:2052
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:615895
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Glossopt...	ORPHA:444077
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Esophageal varix, High palate, Intestinal malrotation	OMIM:613658
Hemophagocytic Lymphohistiocytosis, Familial, 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:603553
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Gastric ulcer, Esophageal varix, Abnormal temper tantrums	ORPHA:2072
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Caroli Syndrome	Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis	ORPHA:480520
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Esophageal varix	ORPHA:309854
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Lymphadenopathy	OMIM:267700
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po...	OMIM:192350
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Hepatoblastoma, Exaggerated median tongue furrow, Gingival overgrowth, Thick vermilio...	OMIM:312870
Dowling-Degos Disease	Abnormality of the hand, Palmar pits, Hyperkeratosis, Anal margin squamous cell carcinoma, Hyperk...	ORPHA:79145
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Williams Syndrome	Rectal prolapse, Gastroesophageal reflux, Compulsive behaviors, Clinodactyly of the 5th finger, M...	ORPHA:904
Microphthalmia, Syndromic 1	Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Dental crowding, Aggressive b...	OMIM:309800
Chilton-Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal, Single transverse palm...	OMIM:619841
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Meckel Syndrome	Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Postaxial ...	ORPHA:564
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Thick vermilion border,...	ORPHA:653
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy	OMIM:617591
Acute Promyelocytic Leukemia	Lymphadenopathy	ORPHA:520
Charge Syndrome	Hypoplasia of the ulna, Anal stenosis, Abnormal palmar dermatoglyphics, Cleft upper lip, Absent r...	OMIM:214800
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Lysosomal Acid Lipase Deficiency	Esophageal varix, Steatorrhea	ORPHA:275761
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo...	ORPHA:50918
Progeroid Short Stature With Pigmented Nevi	Irregular dentition, Esophageal ulceration, Hypodontia	OMIM:176690
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology, Esophagea...	ORPHA:79404
Localized Epidermolysis Bullosa Simplex	Erosion of oral mucosa, Plantar hyperkeratosis, Oral mucosal blisters, Focal friction-related pal...	ORPHA:79400
Pallister-Hall Syndrome	Paroxysmal bursts of laughter, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral ...	ORPHA:672
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Tapered finger, Short uvula, Submucous...	OMIM:619539
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Broad hallux, Single transverse palmar crease, Carious tee...	OMIM:620186
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Oral mucosal blisters	ORPHA:158684
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy	ORPHA:33226
Bilateral Perisylvian Polymicrogyria	Pseudobulbar paralysis, Gastroesophageal reflux, Dysphagia, Protruding tongue	ORPHA:98889
Histiocytosis-Lymphadenopathy Plus Syndrome	Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:602782
Chediak-Higashi Syndrome	Splenomegaly, Lymphadenopathy	OMIM:214500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy	OMIM:619418
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Choreoacanthocytosis	Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue...	ORPHA:2388
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
H Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Poems Syndrome	Lymphadenopathy	ORPHA:2905
Congenital Tracheomalacia	Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula	ORPHA:95430
Plague	Chapped lip, Anorexia, Hematemesis, Abnormality of the elbow, Enterocolitis, Inflammation of the ...	ORPHA:707
Yunis-Varon Syndrome	Single transverse palmar crease, Short metatarsal, Palmoplantar hyperkeratosis, High palate, Abse...	OMIM:216340
Q Fever	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:781
Dyskeratosis Congenita, X-Linked	Carious teeth, Esophageal stricture, Premature loss of teeth, Oral leukoplakia, Anal mucosal leuk...	OMIM:305000
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37042
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ...	ORPHA:3261
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Microphthalmia, Syndromic 3	Esophageal atresia	OMIM:206900
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly	ORPHA:31150
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Broad first metatarsal, Esophageal varix, Polydactyly, Gastroe...	OMIM:619534
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters	ORPHA:158681
Chédiak-Higashi Syndrome	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:167
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Microsporidiosis	Glossitis, Anorexia	ORPHA:2552
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Coccidioidomycosis	Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:228123
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Dental crowding, Short lingual frenulum, Limited wrist movement, Coxa ...	ORPHA:740
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Kawasaki Disease	Glossitis, Cheilitis	ORPHA:2331
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:32960
Familial Mediterranean Fever	Splenomegaly, Lymphadenopathy	ORPHA:342
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy	ORPHA:667
Brucellosis	Hypersplenism, Splenomegaly, Lymphadenopathy	ORPHA:1304
Behçet Disease	Splenomegaly, Lymphadenopathy	ORPHA:117
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Sarcoidosis	Abnormal lymph node morphology, Lymphadenopathy	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Gastroesophageal reflux	OMIM:619525
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:619381
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:256040
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
Crimean-Congo Hemorrhagic Fever	Splenomegaly, Lymphadenopathy	ORPHA:99827
Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:536
Primary Sjögren Syndrome	Lymphadenopathy	ORPHA:289390
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Marburg Hemorrhagic Fever	Lymphadenopathy	ORPHA:99826
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Blau Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Abnormal lymph node morphology	ORPHA:99889
African Trypanosomiasis	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	ORPHA:3385
Alström Syndrome	Abnormality of dental color, Short toe, Esophageal varix, Gingivitis, Tooth agenesis, Gastroesoph...	ORPHA:64
Leptospirosis	Lymphadenopathy	ORPHA:509
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Punctate palmoplantar hyperkeratosis	OMIM:131960
Epidermolysis Bullosa Simplex 2C, Localized	Palmoplantar blistering	OMIM:619594
Dowling-Degos Disease 1		OMIM:179850
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema		OMIM:609352

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 Krt5

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 Krt5.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Krt5^{em1(IMPC)Wtsi}	PMC7263671

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MGI Allele	Allele Type	Produced
Krt5^{em1(IMPC)Wtsi}	Point Mutation	Mice
Krt5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Krt5^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Krt5^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	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: Krt5 MGI:96702

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

X-ray

X-ray

Adult LacZ

X-ray

MicroCT E14.5-E15.5

X-ray

X-ray

Human diseases caused by Krt5 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data