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Gene: Fam83h MGI:2145900

Gene Summary

Name:

family with sequence similarity 83, member H

Synonyms:

N/A

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	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal gallbladder morphology	Fam83h^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased freezing behavior	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	9.00×10^-12
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	2.22×10^-08
abnormal mammary gland morphology	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased locomotor activity	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	6.27×10^-05
no spontaneous movement	Fam83h^{em1(IMPC)Ccpcz}	HOM	E18.5	0.00
increased circulating potassium level	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	2.87×10^-05
abnormal coat/ hair morphology	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	2.45×10^-06
abnormal seminal vesicle morphology	Fam83h^{em1(IMPC)Ccpcz}	HET	Early adult	0.00
abnormal kidney morphology	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal cholesterol homeostasis	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	9.39×10^-05
abnormal behavior	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	4.36×10^-05
small heart	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal coat appearance	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	6.44×10^-24
decreased exploration in new environment	Fam83h^{em1(IMPC)Ccpcz}	HOM	Early adult	3.95×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

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X-ray

XRay Images Hind Leg and Hip

47 Images

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X-ray

XRay Images Skull Lateral Orientation

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

23 Images

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X-ray

XRay Images Forepaw

23 Images

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MicroCT E18.5

Embryo reconstruction

3 Images

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Human diseases caused by Fam83h 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 Fam83h (1 diseases)
Human diseases predicted to be associated with Fam83h (1007 diseases)

The table below shows human diseases associated to Fam83h by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Iiia		Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900

The table below shows human diseases predicted to be associated to Fam83h by phenotypic similarity.

Disease	Matching phenotypes	Source
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Abnormality of the dentition, Sparse pubic hair, Sparse e...	OMIM:605389
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester...	OMIM:600803
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Sparse eyebrow, Hypoplastic...	ORPHA:2722
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Synophrys, Hirsutism, Gingival o...	ORPHA:2026
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit...	ORPHA:2228
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Microdontia of primary teeth, Agenesis of perman...	OMIM:189500
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Epidermal acanthosis, Absent facial hair, Abnorma...	ORPHA:90368
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai...	ORPHA:2325
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Unsteady gait, Cutis laxa, Abs...	ORPHA:2269
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair, Hypodontia	OMIM:246500
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ...	ORPHA:1028
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Cholelithiasis, Jaundice	OMIM:224100
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Poliosis, Dental malocclusion, Patchy alopecia...	OMIM:141300
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:605479
Tooth Agenesis, Selective, 8	Selective tooth agenesis, Sparse eyebrow, Sparse hair, Microdontia, Dry skin	OMIM:617073
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo...	ORPHA:1008
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Erythema, Palmoplantar scaling skin, Scaling skin, Dry skin	ORPHA:530838
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Scaling skin, Nail dystrophy, Sparse hair, Alopecia of scalp, D...	OMIM:604536
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h...	OMIM:129490
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Bathing Suit Ichthyosis	Eclabion, Alopecia, Epidermal acanthosis, Palmoplantar scaling skin, Nail dystrophy, Scaling skin...	ORPHA:100976
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Ataxia, Fine hair, Gait disturbance, Hypodontia, Sparse hair, Microdontia	ORPHA:1174
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Ti...	OMIM:619692
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Gait disturbance, Increased overbite, Long ph...	OMIM:618761
Peeling Skin Syndrome 5	Epidermal acanthosis, Scaling skin	OMIM:617115
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Alpha-Thalassemia	Hypersplenism, Cholelithiasis, Jaundice, Splenomegaly	ORPHA:846
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal dental morphology, Abnormal eyelash morphology, Hypodontia, Sparse hair, Abnormal toenai...	ORPHA:1818
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Absent fifth fingernail, Thick lower lip vermilion,...	OMIM:614607
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis	OMIM:235700
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Angular cheiliti...	OMIM:613102
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Aredyld	Mandibular prognathia, Generalized hypotrichosis	OMIM:207780
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Generalized hirsutism, Hypodontia	ORPHA:1816
Familial Reactive Perforating Collagenosis	Abnormal epidermal morphology, Abnormal fingernail morphology, Abnormal oral mucosa morphology, A...	ORPHA:79147
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Epidermal acanthosis, Nail dystrophy, Hypodontia, Enamel hypoplasia, A...	OMIM:616029
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Spherocytosis, Type 1	Splenomegaly, Cholelithiasis, Jaundice	OMIM:182900
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Widow's peak, Long philtrum, Sparse hair, Thick eyebrow	OMIM:606242
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Hypoplastic t...	ORPHA:420561
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Coffin-Siris Syndrome 3	Sparse scalp hair, Hirsutism, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permane...	OMIM:614608
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Ataxia, Dental crowding, Inability to walk, Macroglossia, High palate,...	OMIM:616354
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Scaling skin, Nail dystrophy, Premature loss of teeth, Alopecia of scalp	OMIM:618373
Acral Peeling Skin Syndrome	Erythema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis	OMIM:612908
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor...	ORPHA:573
Ichthyosis Hystrix, Curth-Macklin Type	Scaling skin	OMIM:146590
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Hypodontia,...	OMIM:224750
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Scaling skin	OMIM:617571
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Broad-based gait, Dry skin	OMIM:614450
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Cheilitis, Leukonychia, Onycholysis, Scali...	OMIM:616295
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Onycholysis, Scaling skin	OMIM:270300
Dermoodontodysplasia	Mandibular prognathia, Sparse scalp hair, Tooth agenesis, Fingernail dysplasia, Trichodysplasia, ...	ORPHA:1660
Recon Progeroid Syndrome	Smooth philtrum, Prominence of the premaxilla, Dental crowding, Hyperconvex thumb nails, Absent l...	OMIM:620370
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate...	ORPHA:2863
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Sulfite Oxidase Deficiency, Isolated	Choreoathetosis, Ataxia, Delayed eruption of teeth, Fine hair	OMIM:272300
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Sparse eyebrow, Abnormal soft palate morphol...	ORPHA:884
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis	OMIM:101900
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ...	ORPHA:1897
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Ataxia, Choreoathetosis, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Tooth agenesis, Palmoplant...	OMIM:605676
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Scaling skin, Abnormality of the nail	OMIM:607602
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Concave nail, ...	OMIM:190350
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair, Everted lower lip vermilion	OMIM:278200
Peeling Skin Syndrome 4	Nail dystrophy, Epidermal acanthosis, Scaling skin	OMIM:607936
Syndromic X-Linked Intellectual Disability 7	Tooth malposition, Abnormal dental morphology, Sparse body hair	ORPHA:85274
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, Advanced eruption of teeth	ORPHA:2266
4H Leukodystrophy	Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Dysmetria, Dysdiadochokinesis, P...	ORPHA:289494
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary teeth, Abno...	ORPHA:1810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ...	ORPHA:90791
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Idiopathic Localized Lipodystrophy	Erythema, Scaling skin	ORPHA:90158
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin	OMIM:113800
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Abnormal dental morphology, Everted lower lip vermilion, Fingernail dysplasia, Sparse h...	ORPHA:2251
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fingernail, Delayed ...	OMIM:619356
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis	ORPHA:848
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Verrucous Hemangioma	Epidermal acanthosis	ORPHA:464318
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis	OMIM:615598
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab...	ORPHA:521219
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Downturned corners of mouth, Sparse hair, Distichiasis, ...	ORPHA:79133
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Abnormality of the dentition, Long eyelashes, Sparse hair	ORPHA:3363
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down...	ORPHA:2107
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Conical tooth, Hypoplastic toenails, Abnormality of the dentition...	ORPHA:952
Bazex Syndrome	Yellow nails, Nail dystrophy, Scaling skin, Lip hyperpigmentation	ORPHA:166113
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ...	OMIM:225060
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, High palate, Everted lower lip...	OMIM:619736
Ichthyosis With Confetti	Hypoplastic nipples, Scaling skin, Hypertrichosis	OMIM:609165
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ...	ORPHA:50814
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Frontal upsweep of hair, Widely spaced teeth	OMIM:619797
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cleft lip, ...	ORPHA:2890
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max...	OMIM:257850
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,...	OMIM:129400
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis	OMIM:615028
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt...	OMIM:614736
Lupus Erythematosus Tumidus	Scaling skin	ORPHA:90283
Ameloonychohypohidrotic Syndrome	Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown discoloration of the teeth...	OMIM:104570
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopec...	OMIM:609638
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Ataxia, Abnormal dental enamel morphology, Open bite, Cario...	ORPHA:10
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Conical tooth, Absent eyelashes, Nail dystrophy, Sparse hair	OMIM:618625
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Scaling skin, Gingivitis	OMIM:614457
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Micrognathia...	ORPHA:1071
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ...	OMIM:618825
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Anonychia, ...	ORPHA:79402
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Conical incisor, Widely spaced primary teeth, Smooth tongue, Dystrophic fi...	OMIM:257980
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Odontomicronychial Dysplasia	Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee...	ORPHA:1811
Barber-Say Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair...	OMIM:209885
Incontinentia Pigmenti	Ridged nail, Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Erythema, ...	OMIM:308300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Epidermal acanthosis, Nail dystrophy, Onychogryposis	ORPHA:79395
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Hypogonadism, Cho...	ORPHA:79095
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper lip vermilion	OMIM:227260
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Thin vermilion border, Long philtrum, Hir...	OMIM:214150
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo...	OMIM:601345
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Psoriasis 2	Epidermal acanthosis, Scaling skin	OMIM:602723
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair	ORPHA:1264
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ...	OMIM:224900
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of primary teeth, Thick lower l...	OMIM:618342
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Spinocerebellar Ataxia 32	Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy	OMIM:613909
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at...	ORPHA:276183
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair	OMIM:618535
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Progeroid Syndrome, Petty Type	Mandibular prognathia, Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Tooth ...	ORPHA:2963
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Alopecia Antibody Deficiency	Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/...	ORPHA:1006
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Ataxia, Dysmetria, Gait ataxia, Oligodontia, Dysdiadochok...	OMIM:614381
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Dry skin, Ataxia, Scaling skin	OMIM:609180
Filippi Syndrome	Serrated incisors, Thin vermilion border, Short philtrum, Hypodontia, Sparse hair, Microdontia, F...	OMIM:272440
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum...	ORPHA:137834
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Sparse eyebrow, Cutis laxa, Long philtrum, Sparse hair, Woolly hair, Re...	OMIM:619691
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, High, narrow palate, Wid...	ORPHA:3051
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Highly arched eyebrow, Hypoplastic fifth fingernail...	OMIM:615866
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ...	ORPHA:59303
Cutaneous Mastocytoma	Erythema, Scaling skin	ORPHA:79455
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti...	ORPHA:3214
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Abnormal hair morphology, Paronychia, Sk...	ORPHA:2314
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash...	OMIM:614941
Developmental And Epileptic Encephalopathy 41	Inability to walk, Lethargy, Delayed eruption of teeth	OMIM:617105
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Redundant skin,...	ORPHA:192
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Downturned ...	ORPHA:1807
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin...	ORPHA:251393
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Nail dysplasia, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Hemochromatosis, Type 1	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating f...	OMIM:235200
Pemphigus Foliaceus	Abnormal oral mucosa morphology, Acantholysis, Erythema, Oral ulcer, Scaling skin, Skin vesicle	ORPHA:79481
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, M...	ORPHA:3253
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:1515
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Cystic liver disease, Bile duct proliferation, H...	OMIM:612284
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Hypodontia, Sparse hair, Aplasia/Hypoplasia of the eye...	ORPHA:50944
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve...	ORPHA:556037
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait at...	OMIM:300953
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Ichthyosis, Annular Epidermolytic, 2	Erythema, Scaling skin	OMIM:620148
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati...	OMIM:610600
Gand Syndrome	Sparse hair, Thin upper lip vermilion, Wide mouth, Short philtrum	OMIM:615074
Kid Syndrome	Epidermal acanthosis, Sparse eyelashes, Angular cheilitis, Lip fissure, Sparse eyebrow, Scarring ...	ORPHA:477
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Th...	OMIM:617053
Peeling Skin Syndrome 6	Dry skin, Scaling skin	OMIM:618084
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Thin vermilion border, Frontal upsweep ...	OMIM:618419
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Highly arched eyebrow, Abnormality of the dentition, Submucous cleft h...	ORPHA:2712
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Hyperkalemia, Abnormal circulating corticosterone leve...	ORPHA:556030
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Onychauxis, High palate, Advanced eruption of teeth, Dry skin, Hypertrichosis	OMIM:262190
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leuko...	OMIM:616353
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Ataxia, Dysmetria, Oligodontia, Hypodontia	ORPHA:447896
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Delayed eru...	OMIM:268400
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice	OMIM:232800
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Epidermal acanthosis, Scaling skin	OMIM:612281
Char Syndrome	Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Thick vermilion borde...	ORPHA:46627
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, D...	OMIM:614940
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cleft palate, H...	OMIM:607812
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Aredyld Syndrome	Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental enamel morphol...	ORPHA:1133
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Cleft palate, Fine hair, Oligodontia, Thin vermilion border, High ...	ORPHA:251019
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Scaling skin	ORPHA:284426
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Epidermal acanthosis, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Spar...	OMIM:242300
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Ataxia, Carious teeth, Inability to walk, Widow's pea...	OMIM:619229
Pycnodysostosis	Ridged nail, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinu...	OMIM:265800
Cockayne Syndrome Type 2	Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Widely spaced primary teeth, Ga...	ORPHA:90322
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morph...	ORPHA:464
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Abnormal ...	ORPHA:481
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis...	OMIM:201810
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Highly arched eyebrow, Open bite, Synophrys, Abnormality of dental eruptio...	ORPHA:1327
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasi...	ORPHA:763
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Low anterior hairline, ...	ORPHA:1787
Barber-Say Syndrome	Delayed eruption of teeth, Redundant skin, Wide mouth, Sparse or absent eyelashes, Breast aplasia...	ORPHA:1231
Sialuria	Hepatosplenomegaly, Cholelithiasis, Elevated hepatic transaminase, Hepatomegaly	ORPHA:3166
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Sparse eye...	OMIM:167210
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Xq27.3Q28 Duplication Syndrome	Thin vermilion border, Sparse body hair	ORPHA:261483
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi...	ORPHA:199299
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Nail...	ORPHA:140936
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Cholelithiasis, Hepatic failure, Elevated hepatic transaminase	OMIM:614886
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair	OMIM:615278
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Everted lower lip vermilion, Sparse...	OMIM:616819
Momo Syndrome	Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Taur...	OMIM:157980
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Sparse eyebrow, Wide mouth, Sparse hair, Smooth ...	OMIM:619989
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Difficulty walking, Enamel hypoplasia, Alopecia univers...	OMIM:277440
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia of teeth, N...	OMIM:234050
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Sparse eyelashes, Alopecia totalis, Selective tooth agenesis, Abnormal...	ORPHA:2909
Mpdu1-Cdg	Thin vermilion border, Scaling skin, Prominent frontal sinuses	ORPHA:79323
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi...	ORPHA:819
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, High, narrow palate, Wide mouth, Downturned corners of mouth	OMIM:273390
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars...	ORPHA:2067
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Un...	OMIM:308750
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Hypodontia, Nail dysplasia, Small nail, Sparse hair, High anterio...	OMIM:119580
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp...	ORPHA:2309
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Hypodo...	OMIM:607626
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Limb ataxia,...	OMIM:617595
Chst3-Related Skeletal Dysplasia	Waddling gait, Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, Long philtrum	ORPHA:263463
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Epidermal acanthosis	OMIM:617526
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po...	ORPHA:100924
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Scaling skin, Alopecia universalis	OMIM:606367
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef...	OMIM:617337
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Ataxia, Micrognathia, Synophrys, Low posterior hairline, Downturned c...	OMIM:619320
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, R...	ORPHA:95409
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy...	ORPHA:171
Olmsted Syndrome 2	Epidermal acanthosis, Cheilitis, Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Broad-based gait, Ataxia, Highly arched eyebrow, Unsteady gait, Downturned corners of mouth, Wide...	OMIM:617865
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hypogonadism, Hepatomegaly	OMIM:619273
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Redundant neck skin, Dental crowding, Micrognathia, Submuco...	ORPHA:96170
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Ataxia, Hydroure...	OMIM:222300
Atrophoderma Vermiculata	Abnormal epidermal morphology, Erythema	ORPHA:79100
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Oral ulcer	ORPHA:169154
Intellectual Developmental Disorder, Autosomal Recessive 5	Smooth philtrum, Broad-based gait, Synophrys, Short philtrum, Sparse hair, Thick upper lip vermil...	OMIM:611091
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Oligodo...	ORPHA:2315
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Erythema, Horizontal eyebrow, Scaling skin, Slow-growing scalp hair, Chronic monilia...	ORPHA:294023
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Low anterior hairline, Low posterior hairline	ORPHA:73272
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair, Carious teeth	ORPHA:1883
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
De Barsy Syndrome	Delayed eruption of teeth, Small, conical teeth, Cutis laxa, Excessive wrinkled skin, Athetosis, ...	ORPHA:2962
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Acute Generalized Exanthematous Pustulosis	Acantholysis, Cheilitis, Scaling skin, Skin vesicle, Purpura	ORPHA:293173
Fanconi Anemia, Complementation Group S	Ataxia, Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Long eyelashes, S...	OMIM:617883
Lamellar Ichthyosis	Abnormality of the dentition, Lack of skin elasticity, Everted lower lip vermilion, Sparse hair, ...	ORPHA:313
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Momo Syndrome	Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Taur...	ORPHA:2563
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Broad-based gait, Micrognathia, Synophrys, Low anterior hairline, Fine ...	ORPHA:391408
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Ataxia, Inability to walk, Dysmetria, Sparse hair, Hirsutism	OMIM:618087
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h...	OMIM:305100
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Acantholysis, Absent eyelashes, Cleft palate, Absent toenail, Absent...	ORPHA:158687
Brachydactyly, Type B1	Delayed eruption of permanent teeth, Anonychia, Hypoplastic fingernail	OMIM:113000
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M...	ORPHA:90790
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mout...	ORPHA:950
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio...	OMIM:620366
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Alopecia totalis, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:221016
Cardiocranial Syndrome, Pfeiffer Type	Micrognathia, Abnormal hair whorl, High, narrow palate, Temporomandibular joint ankylosis, Sparse...	ORPHA:2872
Sickle Cell Disease	Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis	OMIM:603903
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo...	OMIM:269880
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size	OMIM:300534
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Vulvovaginal Gingival Syndrome	Ridged nail, Epidermal acanthosis, Erythema, Oral ulcer, Gingivitis	ORPHA:83453
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Asplenia, Male hypogonadism, C...	OMIM:240300
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Proteus Syndrome	Facial hyperostosis, Mandibular hyperostosis, Epidermal acanthosis, Open mouth	OMIM:176920
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Distal Duplication 5Q	Cryptorchidism, Hypospadias, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Basan Syndrome	Epidermal acanthosis, Nail dystrophy	OMIM:129200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Micrognathia, Narrow mouth, Fine hair, Gait ataxia, Downturned corners of mouth, Oligodontia, Tru...	OMIM:616817
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Abnormality of the dentition	ORPHA:177
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration, Dysp...	OMIM:313200
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Thick eyebrow, Thick hair, Highly arched eyebro...	OMIM:135500
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Hereditary Elliptocytosis	Splenomegaly, Cholelithiasis, Jaundice, Prolonged neonatal jaundice	ORPHA:288
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Decreased circ...	OMIM:203400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Natal tooth, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplastic toenails	OMIM:616901
Ellis Van Creveld Syndrome	Abnormal hair quantity, Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal oral ...	ORPHA:289
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Synophrys, Deep philtrum, Facial erythema, ...	OMIM:619503
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Alopecia totalis, Abnormal dental enamel morphology, Abnormality of th...	ORPHA:221008
Porphyria Cutanea Tarda	Scaling skin, Hirsutism, Hypertrichosis	ORPHA:101330
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait...	ORPHA:682
Bazex-Dupre-Christol Syndrome	Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Thin vermilion border, Short philtrum, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Anauxetic Dysplasia 2	Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair	OMIM:617396
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Graft Versus Host Disease	Stomatitis, Trismus, Scaling skin, Oral ulcer	ORPHA:39812
Ichthyosis, Congenital, Autosomal Recessive 5	Epidermal acanthosis, White scaling skin	OMIM:604777
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Micrognathia, Sparse eyebrow, Abnormality of the dentition, Supernumerary tooth...	ORPHA:77258
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis	ORPHA:171876
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Elastosis Perforans Serpiginosa	Epidermal acanthosis, Cutis laxa	ORPHA:79148
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Broad-based gait, Highly arched eyebrow, Cleft lip, Thick lower lip ve...	OMIM:280000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Distal renal tubular acidosis, Hepatosp...	OMIM:611590
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Diffuse Cutaneous Mastocytosis	Scaling skin	ORPHA:79456
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Slow-growing nails, Thin nail, Short nail	OMIM:601319
Braddock-Carey Syndrome 1	Curly hair, Pierre-Robin sequence, Cleft palate, Thick vermilion border, Everted lower lip vermil...	OMIM:619980
Jaberi-Elahi Syndrome	Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Dysmetria, G...	OMIM:617988
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Thin upper lip vermilion, Tented upper lip vermilion, Sparse eyebrow, Synophrys, Thic...	OMIM:620075
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Smooth philtrum, Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, ...	OMIM:235510
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
East Syndrome	Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H...	ORPHA:199343
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth...	ORPHA:293978
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Micrognathia, Sparse eyebrow, Carious teeth, Retrognathia, Thin vermilion borde...	OMIM:613026
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Retrognathia, Fine hair, Wide mouth, Sparse or absent eyelashes, Thin vermi...	ORPHA:217346
Hereditary Spherocytosis	Splenomegaly, Cholelithiasis, Jaundice, Hepatomegaly	ORPHA:822
Restrictive Dermopathy 1	Natal tooth, Sparse eyelashes, Short nail, Micrognathia, Absent eyelashes, Sparse eyebrow, Submuc...	OMIM:275210
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly, Increased cir...	ORPHA:465508
Ifap Syndrome 2	Angular cheilitis, Atrichia, Nail dystrophy, Perioral erythema, Sparse hair	OMIM:619016
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Micrognathia, Fine hair, Long philtrum	ORPHA:85201
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97261
Short Syndrome	Alopecia, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic bon...	ORPHA:3163
Acute Radiation Syndrome	Scaling skin, Skin ulcer	ORPHA:454831
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot...	OMIM:190351
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Thi...	ORPHA:2526
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Thin nail, Dental crowding, Delayed eruption of primary teeth, Inability to walk, Widely ...	OMIM:617799
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p...	ORPHA:2616
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Epidermal acanthosis	ORPHA:2199
Hallermann-Streiff Syndrome	Sparse scalp hair, Natal tooth, Sparse eyelashes, Selective tooth agenesis, Micrognathia, Sparse ...	OMIM:234100
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sp...	OMIM:620001
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Absent eyelas...	OMIM:106260
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Abnormal fingernail morphology, Micrognathia, Hypop...	ORPHA:235
Familial Hypoaldosteronism	Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Thick lower lip vermilion, Macroglossia, Widely spaced teeth, Hypertri...	OMIM:309900
Mal De Meleda	Erythema, Epidermal acanthosis	ORPHA:87503
Emanuel Syndrome	Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p...	OMIM:609029
Hereditary Mucoepithelial Dysplasia	Alopecia, Gingival overgrowth, Furrowed tongue, Fine hair, Sparse hair	ORPHA:1839
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Hypogeusia, Furrowed tongue, Dyst...	ORPHA:2930
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice	ORPHA:3202
Riddle Syndrome	Ataxia, Erythema, Gait disturbance, Scaling skin, Recurrent sinusitis, Chronic sinusitis	ORPHA:420741
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, High palate, Hypodontia, Sparse hair	OMIM:616854
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, High palate, Persistence of primary teeth	OMIM:147060
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Epidermal acanthosis, Thin nail, Abnormal hair morphology, Erythema, Everted lower lip ...	OMIM:242100
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo...	OMIM:620152
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti...	ORPHA:199296
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Restrictive Dermopathy	Natal tooth, Short nail, Micrognathia, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat g...	ORPHA:1662
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Hirsutism	OMIM:614592
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Carious teeth, Cleft palate, Everted lower lip vermil...	ORPHA:2316
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Difficulty walking	OMIM:264700
Metachromatic Leukodystrophy	Hemobilia, Abnormal gallbladder morphology, Neoplasm of the gallbladder	ORPHA:512
Cockayne Syndrome Type 1	Mandibular prognathia, Ataxia, Delayed eruption of primary teeth, Abnormality of the dentition, W...	ORPHA:90321
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Epidermal acanthosis, Alopecia totalis	OMIM:300918
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Highly arched eyebrow, Curly eyelashes, Clef...	OMIM:122470
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Coffin-Siris Syndrome	Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Hypoplasti...	ORPHA:1465
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid...	ORPHA:57
Glass Syndrome	Broad-based gait, Dental crowding, Micrognathia, Conical tooth, Pierre-Robin sequence, Gingival o...	OMIM:612313
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Retrognathia, Triangular mouth, Fine hair, Fragile nails, Nail dystr...	OMIM:601675
Macs Syndrome	Eclabion, Irregular dentition, Alopecia, Redundant skin, Micrognathia, Sparse eyebrow, Gingival o...	OMIM:613075
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Eclabion, Tiger tail banding, Trichorrhexis nodosa	OMIM:616395
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Unsteady gait, Hirsutism, Gingiv...	OMIM:212066
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Ethylene Glycol Poisoning	Renal insufficiency, Ataxia, Confusion, Hyperkalemia, Renal tubular epithelial necrosis, Euphoria...	ORPHA:31826
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili...	OMIM:601812
Lysosomal Acid Lipase Deficiency	Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Adrenal calcification, Bone-marrow...	ORPHA:275761
Immunodeficiency 58	Recurrent aphthous stomatitis, Psoriasiform lesion, Scaling skin	OMIM:618131
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Tooth malposition, Cleft palat...	OMIM:309350
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Bacterial Toxic-Shock Syndrome	Ecchymosis, Sinusitis, Scaling skin	ORPHA:36234
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Severe periodontitis, Premature loss of primary teeth, Abnormalit...	ORPHA:678
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis	OMIM:618775
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Thick hair, Onychauxis, Abnormality of the dentition, Low...	ORPHA:769
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip, Hypoplastic nipples, Small nail, Sparse hair	OMIM:273400
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Immunodeficiency 49	Natal tooth, Micrognathia, Cutis laxa, Short philtrum, Hirsutism	OMIM:617237
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Gait dis...	OMIM:259600
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Onycholysis, Epidermal acanthosis, Nail dystrophy	OMIM:148700
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth, Purpura	ORPHA:375
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo...	OMIM:619322
Cranioectodermal Dysplasia 3	Short nail, Micrognathia, Broad nail, Fine hair, Cutis laxa, Hypoplasia of teeth, Widely spaced t...	OMIM:614099
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Cystinosis	Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms,...	ORPHA:213
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia	ORPHA:2484
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Thick hair, Carious teeth, Cutis laxa, Excessive wrinkled sk...	ORPHA:357074
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Micrognathia, Sparse eyebrow, High, narrow palate, Th...	OMIM:230740
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Cheilitis	ORPHA:163525
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sparse facial hair, Sparse axillary hair	OMIM:608154
Shukla-Vernon Syndrome	Sparse hair, Broad-based gait	OMIM:301029
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Perianal erythema, Subungual hyperkeratosis, Absent ...	OMIM:308205
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Micrognathia, Carious teeth, Velopharyngeal insuffi...	OMIM:223370
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Decreased liver function...	OMIM:618268
Oculodentodigital Dysplasia	Mandibular prognathia, Curly hair, Brittle hair, Ataxia, Slow-growing hair, Abnormal fingernail m...	ORPHA:2710
Scarf Syndrome	Low posterior hairline, Cutis laxa, Hypoplastic nipples, Long philtrum, Sparse hair, Enamel hypop...	ORPHA:3134
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Long eyelashes, Natal tooth, Micrognathia	OMIM:617802
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Sparse ax...	ORPHA:2136
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Micrognathi...	ORPHA:2108
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Marshall Syndrome	Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Abnormality of the den...	ORPHA:560
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Broad-based gait, Abnormal dental morphology, Micrognathia, High, narr...	ORPHA:369950
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Short nail, Inability to walk, Deep philtrum, High palate, Long eyelas...	ORPHA:1675
Inflammatory Skin And Bowel Disease, Neonatal, 2	Long eyelashes, Epidermal acanthosis	OMIM:616069
Woodhouse-Sakati Syndrome	Alopecia, Choreoathetosis, Scaling skin, Aplasia/Hypoplasia of the eyebrow, Anodontia	ORPHA:3464
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Synophrys, M...	OMIM:610253
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Oculodentodigital Dysplasia	Dry hair, Ataxia, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cl...	OMIM:164200
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ataxia, Delayed eruption of primary teeth, Carious teeth, Dental...	OMIM:216400
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Downturned corners of mouth, Absent eyebrow, Alopecia, Absent eyelashes, Sparse eye...	OMIM:264090
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, High palate, Dystrophic fingernails, Absen...	ORPHA:740
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Hyperconvex fi...	ORPHA:2215
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Oligodontia, Short eyelashes, Sparse bod...	OMIM:608615
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Hypospadias	ORPHA:464738
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Athetosis, Hypokalemia, Pr...	OMIM:615474
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad-based gait, Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality...	ORPHA:251028
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Choreoathetosis, Nephrocalcinosis, Self-i...	OMIM:300322
Hamamy Syndrome	Thin upper lip vermilion, Sparse eyelashes, Micrognathia, Sparse eyebrow, Dental malocclusion, Lo...	OMIM:611174
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis laxa, Fine hair, Excessive wrinkled skin, Athetosis, Thin vermilion border, Sparse hair, De...	OMIM:614438
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, At...	ORPHA:2750
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Narrow m...	OMIM:608612
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline, High palate, Mandibular prognathia	ORPHA:284180
Trisomy 9P	Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Impacted tooth, Downturned corners ...	ORPHA:236
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Abnormality of the dentition, Skin ulcer, Fine hair, Sparse hair	ORPHA:1806
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Short uvula, Cleft palate, Fine hair, Agenesis of permanent teeth, Fused ...	OMIM:614091
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ataxia, Delayed eruption of primary teeth, Abnormal hair morphol...	OMIM:133540
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Cholelithiasis	OMIM:301066
Adult Syndrome	Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Sparse axillary h...	OMIM:103285
Kabuki Syndrome 2	Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palat...	OMIM:300867
Rodrigues Blindness	Sparse hair, Tooth malposition, Fine hair	OMIM:268320
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Difficulty walking	ORPHA:289157
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Carious teeth, Nail pits, Premature graying of hair, Nail dystroph...	OMIM:127550
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High pa...	ORPHA:2457
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Athetosis, Narrow mouth, Cutis laxa	OMIM:219150
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Dental crowding, Highly arched eyebrow, Supernumerary nipple, Micrognat...	OMIM:615485
Wrinkly Skin Syndrome	Microretrognathia, Smooth philtrum, Delayed eruption of teeth, Short nail, Redundant skin, Cariou...	OMIM:278250
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Down Syndrome	Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion, Narrow palate, Downtu...	ORPHA:870
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sparse hair	OMIM:614105
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Epidermal acanthosis, Leukonychia	OMIM:617525
Robinow Syndrome	Dental crowding, Micrognathia, Persistence of primary teeth, Tooth malposition, Gingival overgrow...	ORPHA:97360
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, Excessive skin wrinkling on dorsum of hands and fingers...	ORPHA:2834
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An...	OMIM:618165
White Sponge Nevus 2	Epidermal acanthosis	OMIM:615785
Pentalogy Of Cantrell	Absent gallbladder, Hypospadias, Polysplenia	ORPHA:1335
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Gait ataxia, Widely...	OMIM:601358
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Orofacial cleft, Abnormality of the dentition	ORPHA:568
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormality of the dentiti...	ORPHA:1775
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ...	OMIM:608156
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Ataxia, Gingival overgrowth, Alveolar ridge overgrowth, Widely spaced ...	OMIM:301072
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Confusion, Thrombocytopenia, Leukocytosis, Chronic kidne...	ORPHA:340
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Highly arched eyebrow, Narrow palate, Agenesis...	OMIM:618644
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's...	OMIM:305400
Immunodeficiency, Common Variable, 8, With Autoimmunity	Psoriasiform lesion, Recurrent sinusitis	OMIM:614700
Acrokeratosis Verruciformis Of Hopf	Epidermal acanthosis, Acantholysis, Leukonychia, Nail dystrophy, Anonychia	ORPHA:79151
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Epidermal acanthosis	OMIM:608649
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Abnormality of the dentition, Synophrys, Gait ataxia, Eruption fai...	ORPHA:476126
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a...	ORPHA:2036
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micrognathia, Wido...	OMIM:145420
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Colchicine Poisoning	Hyponatremia, Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concen...	ORPHA:31824
Psoriasis 14, Pustular	Epidermal acanthosis, Erythema, Furrowed tongue, Nail dystrophy, Geographic tongue	OMIM:614204
Coffin-Siris Syndrome 1	Dry hair, Conical tooth, Gait ataxia, Short philtrum, High palate, Microdontia, Retrognathia, Hyp...	OMIM:135900
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Generalized hirsutism, Abnormality of the nail	ORPHA:2348
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Elevat...	ORPHA:423
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Splenomegaly, Hyperka...	OMIM:608885
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin	OMIM:268020
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Mandibular prognathia, Hyperconvex nail, Long philtrum	OMIM:619721
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Submucous cleft har...	ORPHA:1340
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Singleton-Merten Syndrome 2	Psoriasiform lesion	OMIM:616298
Noonan Syndrome 14	Curly hair, Sparse eyebrow, High, narrow palate, Low posterior hairline, Wide mouth, Thick vermil...	OMIM:619745
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Anorexia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Porphyria, Congenital Erythropoietic	Splenomegaly, Cholelithiasis, Jaundice, Hepatomegaly	OMIM:263700
Cerebrotendinous Xanthomatosis	Cholelithiasis	OMIM:213700
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Micrognathia	OMIM:610756
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Thin upper lip vermilion, Patchy alopecia, Long philtrum	OMIM:617763
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Downturned corners of mouth, High palate, Short philtrum, Sparse hair	OMIM:613174
Sotos Syndrome	Mandibular prognathia, Sparse eyebrow, High, narrow palate, Narrow jaw, Narrow palate, High palat...	OMIM:117550
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ...	ORPHA:403
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Nail dystrophy, Thrombocytopenia	OMIM:613987
Naxos Disease	Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Onychol...	OMIM:601214
Raine Syndrome	Mandibular prognathia, Natal tooth, Highly arched eyebrow, Micrognathia, Protruding tongue, Gingi...	OMIM:259775
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Dysdiadochokinesis, Hy...	OMIM:612780
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Nail dystrophy, Recurrent sinusitis, Conical tooth	ORPHA:98813
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Hypoplasia of the maxill...	ORPHA:920
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar...	ORPHA:2751
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs in...	OMIM:613095
Lead Poisoning	Delayed eruption of teeth	ORPHA:330015
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Acrocraniofacial Dysostosis	Abnormal fingernail morphology, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of ...	ORPHA:949
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital...	OMIM:202010
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplastic toenails, Hypoplasia of the maxilla...	OMIM:166250
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Chromosome Xq27.3-Q28 Duplication Syndrome	Thin vermilion border, Sparse body hair	OMIM:300869
Cockayne Syndrome	Dry hair, Ataxia, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, I...	ORPHA:191
Scarf Syndrome	Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Long philtrum, Sp...	OMIM:312830
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hy...	ORPHA:466650
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Polydipsia, Decre...	OMIM:613677
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Anuria, Myocarditis, Leukocytos...	ORPHA:544482
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion	ORPHA:1855
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Mitochondrial Complex I Deficiency, Nuclear Type 33	Loss of ambulation, Sparse hair	OMIM:618253
Genitopalatocardiac Syndrome	Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali...	ORPHA:2075
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn...	OMIM:219800
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Macroglossia, Carious teeth, Hirsutism	OMIM:253200
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Trisomy 8P	Cryptorchidism, Micropenis, Annular pancreas, Aplasia/Hypoplasia of the gallbladder	ORPHA:264450
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Epidermal acanthosis, Oral leukoplakia	OMIM:615735
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis, Hypokalemia, Oligomenorrhea...	OMIM:219090
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis	OMIM:614594
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno...	ORPHA:3376
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Thin upper lip vermilion, Slow-growing hair, Highly arched eyebrow, Deep philtrum, Tr...	OMIM:617506
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ...	OMIM:247200
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Abnorma...	ORPHA:79303
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly...	OMIM:607330
Infantile Digital Fibromatosis	Epidermal acanthosis	ORPHA:199267
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Narrow mouth, Cleft palate, Multiple impacted t...	OMIM:311300
Orofaciodigital Syndrome I	Microretrognathia, Alopecia, Dry hair, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Ca...	OMIM:311200
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hypertrichosis	OMIM:266270
Focal Dermal Hypoplasia	Ridged nail, Delayed eruption of teeth, Brittle hair, Supernumerary nipple, Cleft upper lip, Dent...	OMIM:305600
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Dry skin, Gingival overgrowth	ORPHA:508542
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Micrognathia	ORPHA:2645
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Ataxia, Abnormal dental enamel morphology...	ORPHA:666
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
White-Sutton Syndrome	Waddling gait, Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Th...	OMIM:616364
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Agel Amyloidosis	Tongue atrophy, Ataxia, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin	ORPHA:85448
Joubert Syndrome 37	Sparse hair, High palate	OMIM:619185
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Abnormality of the dentition, Absent eyelashes, Op...	OMIM:115150
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism	OMIM:300712
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l...	OMIM:616449
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Downturned corners of mouth, Nail dystrophy, Small nail, Hypodontia, Sp...	OMIM:617052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypoplasia	ORPHA:83617
Revesz Syndrome	Ataxia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail	OMIM:268130
Palmoplantar Carcinoma, Multiple Self-Healing	Epidermal acanthosis, Nail dystrophy, Long philtrum	OMIM:615225
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Redundant neck skin, Gingival overgrowth, Narrow palate, High palate, Small nail, Na...	OMIM:123790
Doors Syndrome	Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth, ...	ORPHA:79500
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal dental enamel morphology, Abnormal toenail morphology	ORPHA:1005
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Rat-Bite Fever	Scaling skin, Parotitis	ORPHA:31205
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Irritability, Hyp...	ORPHA:173
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Skin ulc...	ORPHA:3474
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Fine hair, Widely spaced teeth...	OMIM:613451
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Lon...	ORPHA:77301
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair, Oral l...	OMIM:612199
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Pallor, Premature loss of primary teeth, Abnormality of hair texture	ORPHA:667
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Micropenis, Hypospadias, Cryptorchidism	ORPHA:163979
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas	ORPHA:97297
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Sparse hair, Tooth mal...	OMIM:616541
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Orofacial cleft, Thick eyebrow	ORPHA:127
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Teebi-Shaltout Syndrome	Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat...	OMIM:272950
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Hypoplastic facia...	OMIM:616300
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
Mucoepithelial Dysplasia, Hereditary	Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Nail dysplasia,...	OMIM:158310
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina	OMIM:617925
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis	OMIM:615022
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair, Micrognathia	OMIM:616200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cleft palate, Cutis laxa, Sparse hair, Long upper lip, Dermal translucency	OMIM:615349
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Abnormal...	ORPHA:567
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Conical tooth, Aplasia of the sweat glands, Hypodontia, Sparse hair, Dry skin	OMIM:612132
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Micrognathia, Sparse eyebrow, Thick vermilion border, Small nail, Sparse hair, ...	OMIM:250410
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sh...	ORPHA:798
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Cornelia De Lange Syndrome	Delayed eruption of teeth, Curly eyelashes, Highly arched eyebrow, Micrognathia, Synophrys, Low a...	ORPHA:199
Cerebellar-Facial-Dental Syndrome	Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurodon...	ORPHA:444072
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Opitz-Kaveggia Syndrome	Dental crowding, Facial wrinkling, Micrognathia, Cleft upper lip, Thick lower lip vermilion, Clef...	OMIM:305450
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Onycholysis, Psoriasiform lesion, Nail pits	ORPHA:85436
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh...	ORPHA:77293
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:231580
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Ataxia, High, narrow palate, Synophrys, Gait disturb...	OMIM:300966
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Dry skin, Epidermal acanthosis, Dysmetria	OMIM:618527
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis	OMIM:133200
Carpenter Syndrome 1	Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet...	OMIM:201000
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Pancre...	ORPHA:2255
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Mandibular prognathia, Abnormality of the dentition, Nail dysplasia, Small nail, S...	OMIM:614813
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Ring Chromosome 13 Syndrome	Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Ambiguous genitalia, Micropenis, Uroge...	ORPHA:96176
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Erythema, Nail dystrophy, Periungual erythema, Sparse hair	OMIM:615934
Cerebrotendinous Xanthomatosis	Cholelithiasis, Prolonged neonatal jaundice	ORPHA:909
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Selective too...	OMIM:129900
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t...	ORPHA:100086
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Azoospermia, Hepatic fibrosis, Chole...	ORPHA:2072
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, Oligodontia, Short philtrum, Thick v...	OMIM:609460
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Epidermal acanthosis	OMIM:613943
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, High palate, Wid...	OMIM:143095
Pseudohypoparathyroidism Type 1A	Choreoathetosis, Enamel hypoplasia, Delayed eruption of teeth	ORPHA:79443
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Premature graying of hair, Abnormality of the nail, Advanced eruption of teeth, Gen...	ORPHA:280365
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Fragile nails	OMIM:242150
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia	OMIM:600373
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Weaver Syndrome	Deep-set nails, Mandibular prognathia, Thin nail, Fine hair, Cutis laxa, Long philtrum, Sparse ha...	OMIM:277590
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hy...	OMIM:617913
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Marburg Hemorrhagic Fever	Reticulocytosis, Pericarditis, Renal insufficiency, Lymphopenia, Elevated circulating creatine ki...	ORPHA:99826
Gitelman Syndrome	Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circula...	OMIM:263800
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79444
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Micrognathia, Diastema, Sparse eyebrow, Carious teeth, High palate, Nar...	OMIM:244450
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Thick lower lip vermilion, Abnormality of the dentition	ORPHA:261652
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer	ORPHA:811
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Sparse body hair, Abnormal palate morphology	ORPHA:3068
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Camurati-Engelmann Disease	Waddling gait, Delayed eruption of teeth, Ataxia, Carious teeth, Craniofacial osteosclerosis	ORPHA:1328
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Hirsutism, Micrognathia	ORPHA:313855
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Pitt-Hopkins Syndrome	Ataxia, Supernumerary nipple, Gait ataxia, Wide mouth, Thick vermilion border, Short philtrum, Fa...	ORPHA:2896
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abn...	ORPHA:887
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Brittle hair, Submucous cleft hard palate, Fine hair, Dysdiadochokinesis, Spars...	OMIM:618891
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Malar flattening	OMIM:302960
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis	OMIM:148600
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Sparse axillary hair, Sparse pubic hair, Fine hair, Agenesis of permanent ...	OMIM:181270
Trisomy 10P	Absent gallbladder, Rectovaginal fistula	ORPHA:171929
Ichthyosis, Congenital, Autosomal Recessive 9	Eclabion, Epidermal acanthosis	OMIM:615023
Adnp Syndrome	Smooth philtrum, Sparse scalp hair, Thin upper lip vermilion, Thick lower lip vermilion, Advanced...	ORPHA:404448
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Mercury Poisoning	Hypokalemia, Acute kidney injury, Confusion, Anorexia	ORPHA:330021
Helix Syndrome	Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Prominence of the premaxilla, Brittle hair, Irregular dentition, Sho...	OMIM:602535
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Micrognathia, Sparse eyebro...	OMIM:620186
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail	ORPHA:974
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth	OMIM:619769
Stuve-Wiedemann Syndrome 1	Pursed lips, Micrognathia, Carious teeth, Thin vermilion border, Smooth tongue, Sparse hair, Mala...	OMIM:601559
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Wide mouth, Narrow mouth, Sparse hair, Woolly hair, Bifid uv...	OMIM:222470
Chronic Actinic Dermatitis	Epidermal acanthosis	ORPHA:330064
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti...	ORPHA:231632
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou...	OMIM:615873
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Renal tub...	ORPHA:411629
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Aggressive behavior...	ORPHA:353281
Smith-Lemli-Opitz Syndrome	Hypopigmentation of hair, Abnormal dental morphology, Abnormal dental enamel morphology, Microgna...	ORPHA:818
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodontitis	ORPHA:79259
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Short upper lip, Wide mouth, Hypoplasia of the ...	OMIM:200110
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Hyperinsuline...	ORPHA:508
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa...	OMIM:300373
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, High, narrow palate, Fine hair, High palate, Widely spa...	OMIM:218330
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Epidermal acanthosis, Micrognathia, Cleft upper lip, Erythema, Stillbirth, Small nail	OMIM:308050
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Digeorge Syndrome	Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop...	OMIM:188400
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair, Hypoplasia of the nasal bone	OMIM:118650
Monosomy 22	Synophrys, Thin vermilion border, High palate, Long philtrum, Sparse hair, Open mouth, Retrognathia	ORPHA:96123
Charge Syndrome	Delayed eruption of teeth, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate morpholog...	ORPHA:138
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Hypoplastic nipples, Neonat...	OMIM:269860
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Jaundice, Biliary atresia, Oligozoospermia, Micropenis	ORPHA:3310
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Micrognathia, Abnormality of the dentition, Cleft palate, Cutis laxa, Spar...	OMIM:151050
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Acantholysis	OMIM:615508
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Synophrys, Unsteady gait, Inability ...	ORPHA:3063
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Pancreatic cysts, Cong...	ORPHA:731
Cranioectodermal Dysplasia 2	Sparse eyelashes, Micrognathia, Sparse eyebrow, Cleft palate, Cutis laxa, Broad philtrum, Fused t...	OMIM:613610
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,...	OMIM:601678
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Punctate Palmoplantar Keratoderma Type 1	Abnormal epidermal morphology, Epidermal acanthosis, Nail dystrophy	ORPHA:79501
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t...	ORPHA:231625
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Sparse hair, Bifid uvula, Alopecia, Sparse eyebrow, Del...	OMIM:601803
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis	OMIM:610227
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatine kinase	ORPHA:681
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Opitz Gbbb Syndrome	Natal tooth, Micrognathia, Cleft lip, Widow's peak, Cleft palate, High palate, Hypodontia, Long p...	ORPHA:2745
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pancreatic hypoplasia, Biliary atresia	OMIM:600001
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ...	OMIM:177200
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Pituitary adenoma, Neoplasm of the gallbladder, He...	ORPHA:733
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti...	ORPHA:904
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess	ORPHA:289176
Zttk Syndrome	Absent gallbladder	OMIM:617140
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis	ORPHA:38
Mucolipidosis Ii Alpha/Beta	Brittle hair, Micrognathia, Sparse eyebrow, Gingival overgrowth, Wide mouth, Macroglossia, Tip-to...	OMIM:252500
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Deep philtrum, Fine hair, Low posterior hairline, Thick vermilion border, ...	OMIM:613563
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Cleft palate, Nail dysplasia, Neonatal death, Microglossia	OMIM:146510
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ataxia, Hypoplasia of the maxilla, Cleft lip, Cl...	OMIM:139210
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Narrow mouth, Micrognathia	OMIM:614114
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Epidermal acanthosis	OMIM:617388
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Cole Disease	Epidermal acanthosis	OMIM:615522
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ...	ORPHA:353277
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Thin upper lip vermilion, Sparse facial hair, Sparse eyebr...	ORPHA:2232
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, High palate, Wide mouth, Ataxia	OMIM:300661
Menkes Disease	Hypopigmentation of hair, Micrognathia, Sparse hair, Woolly hair, Dry skin, Abnormal palate morph...	ORPHA:565
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Natal tooth, Thin upper lip vermilion, Ataxia, Submucous cleft soft palate, Ab...	ORPHA:3455
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Highly arched eyebrow, Microg...	OMIM:619841
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, High palate, Sparse hair	OMIM:607721
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Broad-based gait, Ataxia, Dental crowding, Abno...	ORPHA:2152
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm...	OMIM:261540
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Sparse hair, Anodontia	OMIM:241080
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Widow's peak, Orofacial cleft, Thin vermilion border, Everted lower lip ve...	ORPHA:1519
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Abnormal facial skeleton mo...	ORPHA:548
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Micrognathia, Carious teeth, ...	OMIM:150230
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Broad-based gait, Dental crowding, Abnormal den...	ORPHA:261537
Liddle Syndrome 2	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Brittle hair, Macrodontia, Micrognathia, Cleft p...	OMIM:309500
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ...	ORPHA:93357
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Mowat-Wilson Syndrome	Delayed eruption of teeth, Supernumerary nipple, Submucous cleft hard palate, Cleft palate, Widel...	OMIM:235730
Hawkinsinuria	Sparse hair	OMIM:140350
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Broad-based gait, Dental crowding, Abnormal den...	ORPHA:261552
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Pseudoxanthoma Elasticum	Civatte bodies, White oral mucosal macule, Cutis laxa	OMIM:264800
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili...	ORPHA:2785
Normosmic Congenital Hypogonadotropic Hypogonadism	Cleft palate, Sparse body hair, Breast hypoplasia, Abnormality of the dentition	ORPHA:432
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ...	OMIM:261515
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Stomatitis, Epidermal acanthosis	OMIM:612852
Gardner Syndrome	Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Odontoma, Multiple unerupted teeth	ORPHA:79665
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Dental crowding, Thin vermilion border, High palate, Long philtrum, Sparse h...	OMIM:617157
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Retrognathia, High palate, Wide mouth	OMIM:619934
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Sparse eyebrow, Intra-oral hyperpigmentation, High palate, Nail dystrophy, Short ph...	OMIM:619127
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening	ORPHA:50945
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Facial wrinkling, Dysmetria, Gait ataxia, Dysdiadochokinesis, Narrow mouth, Sp...	OMIM:606721
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Micrognathia	OMIM:606170
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder	ORPHA:349
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal dental enamel morphology, Abnormal eyelash mo...	ORPHA:2273
Scorpion Envenomation	Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Ketonuria, Myocarditis, Glyc...	ORPHA:466677
Costello Syndrome	Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Micrognathia, Thick low...	OMIM:218040
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Singleton-Merten Syndrome 1	Waddling gait, Thin upper lip vermilion, Hypoplasia of the tooth germ, Hypoplasia of the maxilla,...	OMIM:182250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder	ORPHA:500150
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Micrognathia, Abnormal hair morphology, Abnormal hair whorl, La...	ORPHA:79474
Cartilage-Hair Hypoplasia	Sparse hair, Abnormal palate morphology, Gingival overgrowth, Sparse eyebrow	ORPHA:175
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Micrognathia, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thick vermi...	ORPHA:2636
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration...	OMIM:619377
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Micrognathia, Thick vermilion border, Sparse hair, Microdontia, Smooth philtrum	OMIM:620005
Lysinuric Protein Intolerance	Sparse hair, Fine hair, Cutis laxa	OMIM:222700
Roberts Syndrome	Cleft upper lip, Micrognathia, Cleft palate, High palate, Sparse hair, Malar flattening	ORPHA:3103
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Micrognathia, Sparse eyebrow, Fine hair, Stillbirth, Short p...	OMIM:210710
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Hypoplastic philtrum, Unsteady gait, Sparse hair, Nail dysplasia, Loss of ambulation	OMIM:616682
Sotos Syndrome	Abnormality of the dentition, Sparse anterior scalp hair, No permanent dentition, Delayed eruptio...	ORPHA:821
Menke-Hennekam Syndrome 1	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Cleft palate,...	OMIM:618332
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L...	OMIM:249000
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Thin vermilion border, High palate, Sparse hair, Retrognathia	OMIM:619869
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Small scrotum, Portal hypertension, Cholestasis, Bile duct prolife...	OMIM:613658
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate	OMIM:272460
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Floating-Harbor Syndrome	Broad-based gait, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mo...	ORPHA:2044
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Biliary hyperplasia, Intrahepatic chole...	OMIM:619991
Branchiooculofacial Syndrome	Supernumerary nipple, Micrognathia, Cleft upper lip, Abnormality of the dentition, Lower lip pit,...	OMIM:113620
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Primrose Syndrome	Sparse scalp hair, Ataxia, Absent facial hair, Hypoplasia of the maxilla, Narrow mouth, Synophrys...	OMIM:259050
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormal heart valve morphology, Hypospadias, Abnormality of hair texture, Abnormal eye...	ORPHA:286
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Ataxia	OMIM:618426
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Nail dysplasia,...	ORPHA:672
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Anterior pituitary hypoplasia, Elevated circulating aspartate aminotransferase conc...	OMIM:619534
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Wolf-Hirschhorn Syndrome	Cryptorchidism, Abnormality of the gallbladder, Hypospadias, Abdominal situs inversus	ORPHA:280
Roberts-Sc Phocomelia Syndrome	Micrognathia, Cleft upper lip, Cleft palate, Stillbirth, High palate, Sparse hair, Malar flatteni...	OMIM:268300

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 Fam83h

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 Fam83h.

No publications found that use IMPC mice or data for Fam83h.

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MGI Allele	Allele Type	Produced
Fam83h^{tm237040(L1L2_Bact_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Fam83h^{em2(IMPC)Ccpcz}	Whole-gene deletion	Mice, Tissue
Fam83h^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice

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: Fam83h MGI:2145900

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Fam83h mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data