Gene Summary

Name:
family with sequence similarity 83, member H
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal seminal vesicle morphology Fam83hem1(IMPC)Ccpcz HET Early adult 0.00
abnormal coat appearance Fam83hem1(IMPC)Ccpcz HOM Early adult 6.44×10-24
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Fam83hem1(IMPC)Ccpcz HOM Early adult 2.22×10-08
decreased exploration in new environment Fam83hem1(IMPC)Ccpcz HOM Early adult 3.95×10-05
decreased locomotor activity Fam83hem1(IMPC)Ccpcz HOM Early adult 6.27×10-05
abnormal cholesterol homeostasis Fam83hem1(IMPC)Ccpcz HOM Early adult 9.39×10-05
small testis Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal mammary gland morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
small heart Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal coat/ hair morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 2.45×10-06
preweaning lethality, incomplete penetrance Fam83hem1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal gallbladder morphology Fam83hem1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Fam83hem1(IMPC)Ccpcz HOM Early adult 2.87×10-05
abnormal behavior Fam83hem1(IMPC)Ccpcz HOM Early adult 4.36×10-05
abnormal heart morphology Fam83hem1(IMPC)Ccpcz HOM Early adult 0.00
no spontaneous movement Fam83hem1(IMPC)Ccpcz HOM E18.5 0.00
increased freezing behavior Fam83hem1(IMPC)Ccpcz HOM Early adult 9.00×10-12

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Viewing: all phenotypes

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

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

X-ray

XRay Images Hind Leg and Hip

47 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Forepaw

23 Images

MicroCT E18.5

Embryo reconstruction

3 Images

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.

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 Similarity of
phenotypes
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