Phenotypes for disease #00298 (FDH (hypoplasia, dermal, focal (FDH)), OMIM:305600)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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Example	Matches
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218 entries on 3 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000003016	microphthalmia; coloboma of the retina; left-sided posterolateral diaphragmatic hernia; atrial septal defect (ASD); deceased day 0.	-	-	Familial, X-linked dominant	00y00m	-	-	-	-	Paul Brady	00004220
0000003017	bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency.	-	-	Familial, X-linked dominant	00y00m	-	-	-	-	Paul Brady	00004221
0000003018	cutis aplasia of the scalp	-	-	Familial, X-linked dominant	07y?	-	-	-	-	Paul Brady	00004223
0000003019	normal; no phenotypic features	-	-	Familial, X-linked dominant	05y?	-	-	-	-	Paul Brady	00004224
0000173489	Hyperpigmentation, nodular fat herniation, ridged dysplastic nails, dental malformations	-	-	Isolated (sporadic)	-	-	-	-	-	Kaori Yamoto	00231006
0000174274	no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233852
0000174275	dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233853
0000174276	camptodactyly, R preauricular appendage, umbilical hernia, low set ears, aniridia, glaucoma, thorax deformation, gastro esophageal reflux, large clitoris, hypoplastic labia; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); mental retardation (HP:0001249); IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233854
0000174277	developmental delay, yes; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microcephaly (HP:0000252);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233855
0000174278	lower limb hypoplasia, osteoporosis, ostheoarthritis, hearing loss, strabismus, giant cell tumour of bone; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677); hypohidrosis (HP:0000966)	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233856
0000174279	short stature, one abortion, due to limb defects, 5 spontaneous; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); no syndactyly (-HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233857
0000174280	hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); heart defect (HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233858
0000174281	patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233859
0000174282	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233860
0000174283	clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); no syndactyly (-HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627); mental retardation (HP:0001249); omphalocele (HP:0001539), no IUGR (-HP:0001511)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233861
0000174284	dental defects, esophageal papillomas; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; osteopathia striata (HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233862
0000174285	Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); microphthalmia (HP:0000568); microcephaly (HP:0000252); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233863
0000174286	dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233864
0000174287	coloboma iris and choroidea; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); omphalocele (HP:0001539), no IUGR (-HP:0001511)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233865
0000174288	dental defects, clinodactily; skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); has oral features; microcephaly (HP:0000252);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233866
0000174289	hyperhidrosis, bicuspid aortic valve, renal reflux ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), polydactyly (HP:0010442); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627), displaced anus (HP:0004397); no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), caudal appendage (HP:0002825), acral abnormalities, occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233867
0000174290	skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233868
0000174291	dental defects, esophageal papillomas; skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); has oral features;	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233869
0000174292	skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mental retardation (HP:0001249); osteopathia striata (HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233870
0000174293	unilateral hexadactyly; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233871
0000174294	sacral dimple; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), ND;	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233872
0000174295	aniridia, R nipple absent, deformities of ribs; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); no kidney malformation (-HP:0012210);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233873
0000174296	dental defects, anophthalmia, hearing loss; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; significantly decreased vision (HP:0000572), microphthalmia (HP:0000568);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233874
0000174297	syringocystadenoma papilliferum, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules; skin hypoplasia (HP:0008065); skeletal defects (HP:0011842); has oral features; eye anomalies (HP:0000478);	focal dermal hypoplasia, syringocystadenoma papilliferum	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233875
0000174298	coloboma R iris; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233876
0000174299	bilateral blindness, hearing loss, facial cleft, absence deformities of bones, brain defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202); significantly decreased vision (HP:0000572); microcephaly (HP:0000252); mental retardation (HP:0001249); omphalocele (HP:0001539)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233877
0000174300	diastasis pubis, costovertebral dyssegmentation; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); microphthalmia (HP:0000568);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233878
0000174301	dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; coloboma (HP:0000589);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233879
0000174302	optic atrophy; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), hydronephrosis (HP:0000126), displaced anus (HP:0004397);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233880
0000174303	ala nasi coloboma, 2 ear tags, ASD; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); hydronephrosis (HP:0000126), heart defect (HP:0001627); occipitofrontal circumference less than P3-P10 (HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233881
0000174304	unilateral absent clavicle, breast cancer in underdeveloped mamma; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233882
0000174305	R leg shorter, Lymphedema, teleangiectasia, fibroma, bony cyst of fibula; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); hydronephrosis (HP:0000126), no heart defect (-HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511)	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233883
0000174306	unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), yes; thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233884
0000174307	skin hypoplasia (HP:0008065), fat herniation (HP:0008441); microphthalmia (HP:0000568); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233885
0000174308	lymphedema legs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); major internal organs anomalies; occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), hypohidrosis (HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233886
0000174309	midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322)	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233887
0000174310	horseshoe kidney, mitral valve prolapse; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); major internal organs anomalies; omphalocele (HP:0001539)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233888
0000174311	dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233889
0000174312	hypoplastic left heart, lethal outcome ; no patchy alopecia (-HP:0002232), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627); omphalocele (HP:0001539), IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233890
0000174313	has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Raoul Hennekam	00233891
0000174314	Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572); no heart defect (-HP:0001627), displaced anus (HP:0004397); mental retardation (HP:0001249); omphalocele (HP:0001539), caudal appendage (HP:0002825), IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233892
0000174315	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233893
0000174316	hexadactyly; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233894
0000174317	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); oligodontia (HP:0000677); coloboma (HP:0000589); no mental retardation (-HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233895
0000174318	patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); coloboma (HP:0000589);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233896
0000174319	mid facial hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), scoliosis (HP:0002650), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); thin protruding ear (HP:0000411); omphalocele (HP:0001539)	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233897
0000174320	dental defects, caudal cord defects; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202), yes; coloboma (HP:0000589); mental retardation (HP:0001249); omphalocele (HP:0001539)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233898
0000174321	no additional features; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233899
0000174322	ala nasi coloboma; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233900
0000174323	dental caries; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; osteopathia striata (HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233901
0000174324	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no mental retardation (-HP:0001249);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233902
0000174325	patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); osteopathia striata (HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233903
0000174326	has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mammary hypoplasia in adults (HP:0003187)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233904
0000174327	hearing loss, thoracic wall abnormalities; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233905
0000174328	ectopia cordis, ala nasi coloboma, bilat renal agenesis, bilat fibula agenesis, anal atresia, diaphr hernia, butterfly T6, abdominal wall defect; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no cleft lip/palate (-HP:0000202); microphthalmia (HP:0000568); kidney malformation (HP:0012210), heart defect (HP:0001627); no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233906
0000174329	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233907
0000174330	dental anomalies; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233908
0000174331	dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); osteopathia striata (HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233909
0000174332	tooth anomalies, diastasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233910
0000174333	skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233911
0000174334	Blashkolinear pigmentation, tooth anomalies; skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); has oral features;	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233912
0000174335	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233913
0000174336	Blashkolinear pigmentation; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); no mental retardation (-HP:0001249); osteopathia striata (HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233914
0000174337	dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252);	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233915
0000174338	dental defects, bilateral coloboma iris and retina, inguinal hernia, umbilical hernia, moderate hearing deficit, acute lymphatic leukemia, strabismus; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), yes; syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233916
0000174339	costovertebral dyssegmentation, distasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233917
0000174340	patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233918
0000174341	unilat extra nipple; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233919
0000174342	bilateral anophtalmos split sternum, absent nail L 2nd finger, ; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); mental retardation (HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233920
0000174343	dental anomalis; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257); has oral features; no microphthalmia (-HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233921
0000174344	has additional features; skin hypoplasia (HP:0008065);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233922
0000174345	skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233923
0000174346	no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233924
0000174347	hearing loss; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); omphalocele (HP:0001539)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233925
0000174348	abdominal wall defect+bladder ectopia, single umbilical artery, lateral displacement of pubic bones; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); mental retardation (HP:0001249); IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233926
0000174349	optic atrophy, dental defects, inguinal hernia, seizures; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233927
0000174350	clinodactyly, dental defects, asymmetric face; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no heart defect (-HP:0001627), ND; no omphalocele (-HP:0001539), no IUGR (-HP:0001511), ND	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233928
0000174351	unilat aplasia fibula, dermal hypoplasia only lower limbs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202), yes; thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ND; occipitofrontal circumference not less than P3-P10 (-HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233929
0000174352	skin hypoplasia (HP:0008065); scoliosis (HP:0002650), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); coloboma (HP:0000589);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233930
0000174353	dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features;	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233931
0000174354	pulmonic atresia, atrial and ventricular septal defects,overriding aorta, umbilical hernia, low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome ; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627), ND; IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233932
0000174355	sacral dimple; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), polydactyly (HP:0010442), assymmetrical skeletal defects (HP:0011842);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233933
0000174356	hypoplastic thumbs, bladder extrophy, horshoe kidney, no periauricular appendages; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), ND; mental retardation (HP:0001249); no omphalocele (-HP:0001539), height less than P3-P10 (HP:0004322), IUGR (HP:0001511)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233934
0000174357	telangiectasias; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), caudal appendage (HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233935
0000174358	has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233936
0000174359	unilateral agenesis kidney,ectopia cordis, ala nasi coloboma, VSD, diaphr abnor, abdom wall defects, supracerebellar cyst; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233937
0000174360	unilateral agenesis kdney, two ear tags, midline skin defect trunk; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), acral abnormalities	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233938
0000174361	has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478);	Goltz-Gorlin syndrome	FDH	Unknown	-	-	-	-	-	Maria Paola Lombardi	00233939
0000174362	dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features;	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233940
0000174363	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842);	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233941
0000174364	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); mammary hypoplasia in adults (HP:0003187)	Goltz-Gorlin syndrome	FDH	Isolated (sporadic)	-	-	-	-	-	Maria Paola Lombardi	00233942
0000174365	skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); eye anomalies (HP:0000478); omphalocele (HP:0001539)	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233943
0000174366	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); mammary hypoplasia in adults (HP:0003187)	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233944
0000174367	nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842);	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233945
0000174368	tetralogy of Fallot; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); heart defect (HP:0001627);	Goltz-Gorlin syndrome	FDH	Familial	-	-	-	-	-	Maria Paola Lombardi	00233946

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Global Variome shared LOVD